text "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lymphocytic Choriomeningitis (LCM)? ? ### Response: LCMV infections can occur after exposure to fresh urine, droppings, saliva, or nesting materials from infected rodents. Transmission may also occur when these materials are directly introduced into broken skin, the nose, the eyes, or the mouth, or presumably, via the bite of an infected rodent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphocytic Choriomeningitis (LCM) ? ### Response: LCMV is most commonly recognized as causing neurological disease, as its name implies, though infection without symptoms or mild febrile illnesses are more common clinical manifestations. For infected persons who do become ill, onset of symptoms usually occurs 8-13 days after exposure to the virus as part of a biphasic febrile illness. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lymphocytic Choriomeningitis (LCM)? ? ### Response: Individuals of all ages who come into contact with urine, feces, saliva, or blood of wild mice are potentially at risk for infection. Owners of pet mice or hamsters may be at risk for infection if these animals originate from colonies that were contaminated with LCMV, or if their animals are infected from other wild mice. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lymphocytic Choriomeningitis (LCM) ? ### Response: Aseptic meningitis, encephalitis, or meningoencephalitis requires hospitalization and supportive treatment based on severity. Anti-inflammatory drugs, such as corticosteroids, may be considered under specific circumstances. Although studies have shown that ribavirin, a drug used to treat several other viral diseases, is effective against LCMV in vitro, there is no established evidence to support its routine use for treatment of LCM in humans. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Lymphocytic Choriomeningitis (LCM) ? ### Response: LCMV infection can be prevented by avoiding contact with wild mice and taking precautions when handling pet rodents (i.e. mice, hamsters, or guinea pigs). Rarely, pet rodents may become infected with LCMV from wild rodents. Breeders, pet stores, and pet owners should take measures to prevent infestations of wild rodents. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Cysticercosis ? ### Response: Cysticercosis is an infection caused by the larvae of the parasite Taenia solium. This infection occurs after a person swallows tapeworm eggs. The larvae get into tissues such as muscle and brain, and form cysts there (these are called cysticerci). When cysts are found in the brain, the condition is called neurocysticercosis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Cysticercosis? ? ### Response: Cysticercosis is an infection caused by the larvae of the tapeworm, Taenia solium. A person with an adult tapeworm, which lives in the person’s gut, sheds eggs in the stool. The infection with the adult tapeworm is called taeniasis. A pig then eats the eggs in the stool. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Cysticercosis ? ### Response: If you think that you may have cysticercosis, please see your health care provider. Your health care provider will ask you about your symptoms, where you have travelled, and what kinds of foods you eat. The diagnosis of neurocysticercosis usually requires MRI or CT brain scans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Cysticercosis ? ### Response: Some people with cysticercosis do not need to be treated. There are medications available to treat cysticercosis for those who do need treatment. Sometimes surgery may be needed. Your doctor will advise you on which treatment is best for you. More on: Resources for Health Professionals: Treatment " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Cysticercosis ? ### Response: To prevent cysticercosis, the following precautions should be taken: - Wash your hands with soap and warm water after using the toilet, changing diapers, and before handling food - Teach children the importance of washing hands to prevent infection " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Cysticercosis ? ### Response: To prevent cysticercosis, the following precautions should be taken: - Wash your hands with soap and warm water after using the toilet, changing diapers, and before handling food - Teach children the importance of washing hands to prevent infection " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Trichuriasis (also known as Whipworm Infection)? ? ### Response: Whipworm is a soil-transmitted helminth (STH) and is the third most common roundworm of humans. Whipworm causes an infection called trichuriasis and often occurs in areas where human feces is used as fertilizer or where defecation onto soil happens. The worms are spread from person to person by fecal-oral transmission or through feces-contaminated food. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Trichuriasis (also known as Whipworm Infection) ? ### Response: Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment. Infections are generally treated for 3 days. The recommended medications are effective. Health care providers may decide to repeat a stool exam after treatment. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Trichuriasis (also known as Whipworm Infection) ? ### Response: The best way to prevent whipworm infection is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (""night soil"") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Trichuriasis (also known as Whipworm Infection) ? ### Response: The best way to prevent whipworm infection is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (""night soil"") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. " "Below is an instruction from Human. Write a response. ### Instruction: how can these diseases be diagnosed for Marine Toxins ? ### Response: Diagnosis of marine toxin poisoning is generally based on symptoms and a history of recently eating a particular kind of seafood. Laboratory testing for the specific toxin in patient samples is generally not necessary because this requires special techniques and equipment available in only specialized laboratories. " "Below is an instruction from Human. Write a response. ### Instruction: how can these diseases be treated for Marine Toxins ? ### Response: Other than supportive care there are few specific treatments for ciguatera poisoning, paralytic shellfish poisoning, neurotoxic shellfish poisoning, or amnesic shellfish poisoning. Antihistamines and epinephrine, however, may sometimes be useful in treating the symptoms of scombrotoxic fish poisoning. " "Below is an instruction from Human. Write a response. ### Instruction: how common are these diseases for Marine Toxins ? ### Response: Every year, approximately 30 cases of poisoning by marine toxins are reported in the United States. Because healthcare providers are not required to report these illnesses and because many milder cases are not diagnosed or reported, the actual number of poisonings may be much greater. " "Below is an instruction from Human. Write a response. ### Instruction: how common are these diseases for Marine Toxins ? ### Response: Every year, approximately 30 cases of poisoning by marine toxins are reported in the United States. Because healthcare providers are not required to report these illnesses and because many milder cases are not diagnosed or reported, the actual number of poisonings may be much greater. " "Below is an instruction from Human. Write a response. ### Instruction: what is the government doing about these diseases for Marine Toxins ? ### Response: Some health departments test shellfish harvested within their jurisdiction to monitor the level of dinoflagellate toxins and asses the risk for contamination. Based on the results of such testing, recreational and commercial seafood harvesting may be prohibited locally during periods of risk. " "Below is an instruction from Human. Write a response. ### Instruction: what else can be done to prevent these diseases for Marine Toxins ? ### Response: It is important to notify public health departments about even one person with marine toxin poisoning. Public health departments can then investigate to determine if a restaurant, oyster bed, or fishing area has a problem. This prevents other illnesses. In any food poisoning occurrence, consumers should note foods eaten and freeze any uneaten portions in case they need to be tested. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Yellow Fever Vaccination ? ### Response: If you continue to live or travel in yellow fever-endemic areas, you should receive a booster dose of yellow fever vaccine after 10 years. After receiving the vaccine, you should receive an International Certificate of Vaccination (yellow card) that has been validated by the vaccination center. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Schistosomiasis? ? ### Response: Schistosomiasis is an important cause of disease in many parts of the world, most commonly in places with poor sanitation. School-age children who live in these areas are often most at risk because they tend to spend time swimming or bathing in water containing infectious cercariae. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Schistosomiasis ? ### Response: Stool or urine samples can be examined microscopically for parasite eggs (stool for S. mansoni or S. japonicum eggs and urine for S. haematobium eggs). The eggs tend to be passed intermittently and in small amounts and may not be detected, so it may be necessary to perform a blood (serologic) test. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Schistosomiasis ? ### Response: Safe and effective medication is available for treatment of both urinary and intestinal schistosomiasis. Praziquantel, a prescription medication, is taken for 1-2 days to treat infections caused by all Schistosoma species. More on: Resources for Health " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Schistosomiasis ? ### Response: Prevention No vaccine is available. The best way to prevent schistosomiasis is to take the following steps if you are visiting or live in an area where schistosomiasis is transmitted: - Avoid swimming or wading in freshwater when you are in countries in which schistosomiasis occurs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Lice - Head Lice ? ### Response: The head louse, or Pediculus humanus capitis, is a parasitic insect that can be found on the head, eyebrows, and eyelashes of people. Head lice feed on human blood several times a day and live close to the human scalp. Head lice are not known to spread disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Lice - Head Lice? ? ### Response: In the United States, infestation with head lice (Pediculus humanus capitis) is most common among preschool- and elementary school-age children and their household members and caretakers. Head lice are not known to transmit disease; however, secondary bacterial infection of the skin resulting from scratching can occur with any lice infestation. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Lice - Head Lice ? ### Response: Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person. Because adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Lice - Head Lice ? ### Response: General Guidelines Treatment for head lice is recommended for persons diagnosed with an active infestation. All household members and other close contacts should be checked; those persons with evidence of an active infestation should be treated. Some experts believe prophylactic treatment is prudent for persons who share the same bed with actively-infested individuals. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Lice - Head Lice ? ### Response: Head lice are spread most commonly by direct head-to-head (hair-to-hair) contact. However, much less frequently they are spread by sharing clothing or belongings onto which lice have crawled or nits attached to shed hairs may have fallen. The risk of getting infested by a louse that has fallen onto a carpet or furniture is very small. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Lice - Body Lice ? ### Response: Body lice are parasitic insects that live on clothing and bedding used by infested persons. Body lice frequently lay their eggs on or near the seams of clothing. Body lice must feed on blood and usually only move to the skin to feed. Body lice exist worldwide and infest people of all races. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Lice - Body Lice? ? ### Response: Body lice infestation is found worldwide but generally is limited to persons who live under conditions of crowding and poor hygiene who do not have access to regular bathing and changes of clean clothes, such as: - the homeless, - refugees, - survivors of war or natural disasters. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Lice - Body Lice ? ### Response: Body lice infestation is diagnosed by finding eggs and crawling lice in the seams of clothing. Sometimes a body louse can be seen crawling or feeding on the skin. Although body lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find crawling lice or eggs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Lice - Body Lice ? ### Response: A body lice infestation is treated by improving the personal hygiene of the infested person, including assuring a regular (at least weekly) change of clean clothes. Clothing, bedding, and towels used by the infested person should be laundered using hot water (at least 130°F) and machine dried using the hot cycle. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Lice - Body Lice ? ### Response: Body lice are spread most commonly by direct contact with an infested person or an infested person’s clothing or bedding. Body lice usually infest persons who do not launder and change their clothes regularly. The following are steps that can be taken to help prevent and control the spread of body lice: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent La Crosse Encephalitis ? ### Response: There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent La Crosse Encephalitis ? ### Response: There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Toxocariasis (also known as Roundworm Infection)? ? ### Response: Infected dogs and cats shed Toxocara eggs in their feces into the environment. Once in the environment, it takes 2 to 4 weeks for Toxocara larvae to develop and for the eggs to become infectious. Humans or other animals can be infected by accidentally ingesting Toxocara eggs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Toxocariasis (also known as Roundworm Infection) ? ### Response: If you think you or your child may have toxocariasis, you should see your health care provider to discuss the possibility of infection and, if necessary, to be examined. Toxocariasis can be difficult to diagnose because the symptoms of toxocariasis are similar to the symptoms of other infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Toxocariasis (also known as Roundworm Infection) ? ### Response: Visceral toxocariasis can be treated with antiparasitic drugs such as albendazole or mebendazole. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye. More on: Resources For Healt " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Toxocariasis (also known as Roundworm Infection) ? ### Response: Controlling Toxocara infection in dogs and cats will reduce the number of infectious eggs in the environment and reduce the risk of infection for people. Have your veterinarian treat your dogs and cats, especially young animals, regularly for worms. This is especially important if your pets spend time outdoors and may become infected again. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ? ### Response: Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. The infection is usually diagnosed by an eye specialist based on symptoms, growth of the ameba from a scraping of the eye, and/or seeing the ameba by a process called confocal microscopy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ? ### Response: Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ? ### Response: Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Scabies ? ### Response: Scabies is an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The microscopic scabies mite burrows into the upper layer of the skin where it lives and lays its eggs. The most common symptoms of scabies are intense itching and a pimple-like skin rash. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Scabies ? ### Response: Diagnosis of a scabies infestation usually is made based upon the customary appearance and distribution of the the rash and the presence of burrows. Whenever possible, the diagnosis of scabies should be confirmed by identifying the mite or mite eggs or fecal matter (scybala). " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Scabies ? ### Response: When a person is infested with scabies mites the first time, symptoms may not appear for up to two months after being infested. However, an infested person can transmit scabies, even if they do not have symptoms. Scabies usually is passed by direct, prolonged skin-to-skin contact with an infested person. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Alkhurma Hemorrhagic Fever (AHF)? ? ### Response: Transmission of AHFV is not well understood. AHFV is a zoonotic virus, and its described tick hosts (the soft tick Ornithodoros savignyi and the hard tick Hyalomma dromedari) are widely distributed. People can become infected through a tick bite or when crushing infected ticks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alkhurma Hemorrhagic Fever (AHF) ? ### Response: Based on limited information, after an incubation period that could be as short as 2-4 days, the disease presents initially with non-specific flu-like symptoms, including fever, anorexia (loss of appetite), general malaise, diarrhea, and vomiting; a second phase has appeared in some patients, and includes neurologic and hemorrhagic symptoms in severe form. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Alkhurma Hemorrhagic Fever (AHF)? ? ### Response: Contact with livestock with tick exposure are risk factors for humans, as is contact with infected ticks, whether through crushing the infected tick with unprotected fingers or by a bite from an infected tick. Slaughtering of animals which may acutely but asymptomatically infected may also be a risk factor, as it is possible that infected animals develop a viremia without obvious clinical signs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alkhurma Hemorrhagic Fever (AHF) ? ### Response: Clinical diagnosis could be difficult due to similarities between AVHF, Crimean-Congo Hemorrhagic fever (CCHF), and Rift Valley fever (RVF), which occur in similar geographic areas. Laboratory diagnosis of AHF can be made in the early stage of the illness by molecular detection by PCR or virus isolation from blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alkhurma Hemorrhagic Fever (AHF) ? ### Response: There is no standard specific treatment for the disease. Patients receive supportive therapy, which consists of balancing the patient’s fluid and electrolytes, maintaining oxygen status and blood pressure, and treatment for any complications. Mortality in hospitalized patients ranges from 1-20%. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alkhurma Hemorrhagic Fever (AHF) ? ### Response: Given that no treatment or specific prophylaxis is presently available, prevention and increased awareness of AHFV are the only recommended measures. Complete control of ticks and interruption of the virus life cycle is impractical; in endemic regions, it is important to avoid tick-infested areas and to limit contact with livestock and domestic animals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Taeniasis ? ### Response: Taeniasis in humans is a parasitic infection caused by the tapeworm species Taenia saginata (beef tapeworm), Taenia solium (pork tapeworm), and Taenia asiatica (Asian tapeworm). Humans can become infected with these tapeworms by eating raw or undercooked beef (T. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Taeniasis? ? ### Response: The tapeworms that cause taeniasis (Taenia saginata, T. solium, and T. asiatica) are found worldwide. Eating raw or undercooked beef or pork is the primary risk factor for acquiring taeniasis. Persons who don't eat raw or undercooked beef or pork are not likely to get taeniasis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Taeniasis ? ### Response: Diagnosis of Taenia tapeworm infections is made by examination of stool samples; individuals should also be asked if they have passed tapeworm segments. Stool specimens should be collected on three different days and examined in the lab for Taenia eggs using a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Taeniasis ? ### Response: Treatment is available after accurate diagnosis. Your doctor will provide prescription medication, either praziquantel or niclosamide, which is taken by mouth. The medication is also available in a children’s dosage. Work with your health care provider for proper treatment options for you and your family. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Taeniasis ? ### Response: One way to prevent taeniasis is to cook meat to safe temperatures. A food thermometer should be used to measure the internal temperature of cooked meat. Do not sample meat until it is cooked. USDA recommends the following for meat preparation. - For Whole Cuts of Meat (excluding poultry) " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Baylisascaris infection ? ### Response: Baylisascaris worms are intestinal parasites found in a wide variety of animals. Different species of Baylisascaris are associated with different animal hosts. For example, Baylisascaris procyonis is found in raccoons and Baylisascaris columnaris is an intestinal parasite found in skunks. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Baylisascaris infection ? ### Response: If you suspect you have been infected, consult your health care provider immediately. Be sure to tell your health care provider if you have recently been exposed to raccoons or their feces. Diagnosis is difficult because symptoms depend on the number of infecting larvae and location in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Baylisascaris infection ? ### Response: No drugs have been shown to be totally effective for the treatment of Baylisascaris infection. Albendazole, a broad spectrum anthelmintic, has been recommended for specific cases. Early treatment might reduce serious damage caused by the infection. Should you suspect you may have ingested raccoon feces, seek immediate medical attention. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Baylisascaris infection ? ### Response: Baylisascaris infection can be prevented by avoiding contact with raccoons and their feces. Washing your hands after working or playing outdoors is good practice for preventing a number of diseases. Do not keep, feed, or adopt wild animals, including raccoons, as pets. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Babesiosis ? ### Response: Babesiosis is caused by microscopic parasites that infect red blood cells. Most human cases of Babesia infection in the United States are caused by the parasite Babesia microti. Occasional cases caused by other species (types) of Babesia have been detected. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Babesiosis? ? ### Response: People can get infected with Babesia parasites in several ways: - The main way is through the bite of an infected tick—during outdoor activities in areas where babesiosis is found (see below). - A less common way is by getting a transfusion from a blood donor who has a Babesia infection but does not have any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Babesiosis ? ### Response: In symptomatic people, babesiosis usually is diagnosed by examining blood specimens under a microscope and seeing Babesia parasites inside red blood cells. To be sure the diagnosis is correct, your health care provider might have specimens of your blood tested by a specialized reference laboratory (such as at CDC or a health department). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Babesiosis ? ### Response: Effective treatments are available. People who do not have any symptoms or signs of babesiosis usually do not need to be treated. Before considering treatment, the first step is to make sure the diagnosis is correct. For more information, people should talk to their health care provider. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Babesiosis ? ### Response: Steps can be taken to reduce the risk for babesiosis and other tickborne infections. The use of prevention measures is especially important for people at increased risk for severe babesiosis (for example, people who do not have a spleen). Avoiding exposure to tick habitats is the best defense. " "Below is an instruction from Human. Write a response. ### Instruction: what are the signs and symptoms of rabies? ### Response: The first symptoms of rabies may be very similar to those of the flu including general weakness or discomfort, fever, or headache. These symptoms may last for days. There may be also discomfort or a prickling or itching sensation at the site of bite, progressing within days to symptoms of cerebral dysfunction, anxiety, confusion, agitation. " "Below is an instruction from Human. Write a response. ### Instruction: what is the risk for my pet for Rabies ? ### Response: Any animal bitten or scratched by either a wild, carnivorous mammal or a bat that is not available for testing should be regarded as having been exposed to rabies. Unvaccinated dogs, cats, and ferrets exposed to a rabid animal should be euthanized immediately. " "Below is an instruction from Human. Write a response. ### Instruction: how is rabies diagnosed? ### Response: In animals, rabies is diagnosed using the direct fluorescent antibody (DFA) test, which looks for the presence of rabies virus antigens in brain tissue. In humans, several tests are required. Rapid and accurate laboratory diagnosis of rabies in humans and other animals is essential for timely administration of postexposure prophylaxis. " "Below is an instruction from Human. Write a response. ### Instruction: what is botulism? ### Response: Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin. " "Below is an instruction from Human. Write a response. ### Instruction: how common is botulism? ### Response: In the United States, an average of 145 cases are reported each year.Of these, approximately 15% are foodborne, 65% are infant botulism, and 20% are wound. Adult intestinal colonization and iatrogenic botulism also occur, but rarely. Outbreaks of foodborne botulism involving two or more persons occur most years and are usually caused by home-canned foods. " "Below is an instruction from Human. Write a response. ### Instruction: what are the symptoms of botulism? ### Response: The classic symptoms of botulism include double vision, blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. Infants with botulism appear lethargic, feed poorly, are constipated, and have a weak cry and poor muscle tone. " "Below is an instruction from Human. Write a response. ### Instruction: how is botulism diagnosed? ### Response: Physicians may consider the diagnosis if the patient's history and physical examination suggest botulism. However, these clues are usually not enough to allow a diagnosis of botulism. Other diseases such as Guillain-Barré syndrome, stroke, and myasthenia gravis can appear similar to botulism, and special tests may be needed to exclude these other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: how can botulism be treated? ### Response: The respiratory failure and paralysis that occur with severe botulism may require a patient to be on a breathing machine (ventilator) for weeks or months, plus intensive medical and nursing care. The paralysis slowly improves. Botulism can be treated with an antitoxin which blocks the action of toxin circulating in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: are there complications from botulism? ### Response: Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients die from infections or other problems related to remaining paralyzed for weeks or months. " "Below is an instruction from Human. Write a response. ### Instruction: what are public health agencies doing to prevent or control botulism? ### Response: Public education about botulism prevention is an ongoing activity. Information about safe canning is widely available for consumers. Persons in state health departments and at CDC are knowledgeable about botulism and available to consult with physicians 24 hours a day. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Marburg hemorrhagic fever (Marburg HF)? ? ### Response: It is unknown how Marburg virus first transmits from its animal host to humans; however, for the 2 cases in tourists visiting Uganda in 2008, unprotected contact with infected bat feces or aerosols are the most likely routes of infection. After this initial crossover of virus from host animal to humans, transmission occurs through person-to-person contact. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marburg hemorrhagic fever (Marburg HF) ? ### Response: After an incubation period of 5-10 days, symptom onset is sudden and marked by fever, chills, headache, and myalgia. Around the fifth day after the onset of symptoms, a maculopapular rash, most prominent on the trunk (chest, back, stomach), may occur. Nausea, vomiting, chest pain, a sore throat, abdominal pain, and diarrhea may then appear. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Marburg hemorrhagic fever (Marburg HF)? ? ### Response: People who have close contact with African fruit bats, humans patients, or non-human primates infected with Marburg virus are at risk. Historically, the people at highest risk include family members and hospital staff who care for patients infected with Marburg virus and have not used proper barrier nursing techniques. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Marburg hemorrhagic fever (Marburg HF) ? ### Response: Many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other more frequent infectious diseases, such as malaria or typhoid fever, making diagnosis of the disease difficult. This is especially true if only a single case is involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Marburg hemorrhagic fever (Marburg HF) ? ### Response: There is no specific treatment for Marburg hemorrhagic fever. Supportive hospital therapy should be utilized, which includes balancing the patient's fluids and electrolytes, maintaining oxygen status and blood pressure, replacing lost blood and clotting factors, and treatment for any complicating infections. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Marburg hemorrhagic fever (Marburg HF) ? ### Response: Preventive measures against Marburg virus infection are not well defined, as transmission from wildlife to humans remains an area of ongoing research. However, avoiding fruit bats, and sick non-human primates in central Africa, is one way to protect against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Leishmaniasis ? ### Response: Leishmaniasis is a parasitic disease that is found in parts of the tropics, subtropics, and southern Europe. Leishmaniasis is caused by infection with Leishmania parasites, which are spread by the bite of infected sand flies. There are several different forms of leishmaniasis in people. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Leishmaniasis? ? ### Response: Leishmaniasis is found in people in focal areas of more than 90 countries in the tropics, subtropics, and southern Europe. The ecologic settings range from rain forests to deserts. Leishmaniasis usually is more common in rural than in urban areas, but it is found in the outskirts of some cities. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Leishmaniasis ? ### Response: Various laboratory methods can be used to diagnose leishmaniasis—to detect the parasite as well as to identify the Leishmania species (type). Some of the methods are available only in reference laboratories. In the United States, CDC staff can assist with the testing for leishmaniasis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Leishmaniasis ? ### Response: Before considering treatment, the first step is to make sure the diagnosis is correct. Treatment decisions should be individualized. Health care providers may consult CDC staff about the relative merits of various approaches. Examples of factors to consider include the form of leishmaniasis, the Leishmania species that caused it, the potential severity of the case, and the patient's underlying health. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Leishmaniasis ? ### Response: No vaccines or drugs to prevent infection are available. The best way for travelers to prevent infection is to protect themselves from sand fly bites. To decrease the risk of being bitten, follow these preventive measures: Avoid outdoor activities, especially from dusk to dawn, when sand flies generally are the most active. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Toxoplasmosis (Toxoplasma infection) ? ### Response: A single-celled parasite called Toxoplasma gondii causes a disease known as toxoplasmosis. While the parasite is found throughout the world, more than 60 million people in the United States may be infected with the Toxoplasma parasite. Of those who are infected, very few have symptoms because a healthy person’s immune system usually keeps the parasite from causing illness. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Toxoplasmosis (Toxoplasma infection)? ? ### Response: Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii. In the United States it is estimated that 22.5% of the population 12 years and older have been infected with Toxoplasma. In various places throughout the world, it has been shown that up to 95% of some populations have been infected with Toxoplasma. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Toxoplasmosis (Toxoplasma infection) ? ### Response: The diagnosis of toxoplasmosis is typically made by serologic testing. A test that measures immunoglobulin G (IgG) is used to determine if a person has been infected. If it is necessary to try to estimate the time of infection, which is of particular importance for pregnant women, a test which measures immunoglobulin M (IgM) is also used along with other tests such as an avidity test. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Toxoplasmosis (Toxoplasma infection) ? ### Response: Healthy people (nonpregnant) Most healthy people recover from toxoplasmosis without treatment. Persons who are ill can be treated with a combination of drugs such as pyrimethamine and sulfadiazine, plus folinic acid. Pregnant women, newborns, and infants " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Toxoplasmosis (Toxoplasma infection) ? ### Response: People who are healthy should follow the guidelines below to reduce risk of toxoplasmosis. If you have a weakened immune system, please see guidelines for Immunocompromised Persons. Reduce Risk from Food To prevent risk of toxoplasmosis and other infections from food: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Toxoplasmosis (Toxoplasma infection) ? ### Response: People who are healthy should follow the guidelines below to reduce risk of toxoplasmosis. If you have a weakened immune system, please see guidelines for Immunocompromised Persons. Reduce Risk from Food To prevent risk of toxoplasmosis and other infections from food: " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Hookworm? ? ### Response: Hookworm is a soil-transmitted helminth (STH) and is one of the most common roundworm of humans. Infection is caused by the nematode parasites Necator americanus and Ancylostoma duodenale. Hookworm infections often occur in areas where human feces are used as fertilizer or where defecation onto soil happens. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Hookworm? ? ### Response: Hookworm is a soil-transmitted helminth (STH) and is one of the most common roundworm of humans. Infection is caused by the nematode parasites Necator americanus and Ancylostoma duodenale. Hookworm infections often occur in areas where human feces are used as fertilizer or where defecation onto soil happens. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Hookworm ? ### Response: Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of hookworm infections. Infections are generally treated for 1-3 days. The recommended medications are effective and appear to have few side effects. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Hookworm ? ### Response: The best way to avoid hookworm infection is not to walk barefoot in areas where hookworm is common and where there may be human fecal contamination of the soil. Also, avoid other skin contact with such soil and avoid ingesting it. Infection can also be prevented by not defecating outdoors and by effective sewage disposal systems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - American Trypanosomiasis (also known as Chagas Disease) ? ### Response: Chagas disease is caused by the parasite Trypanosoma cruzi, which is transmitted to animals and people by insect vectors that are found only in the Americas (mainly, in rural areas of Latin America where poverty is widespread). Chagas disease (T. cruzi infection) is also referred to as American trypanosomiasis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - American Trypanosomiasis (also known as Chagas Disease)? ? ### Response: Chagas disease, or American trypanosomiasis, is caused by the parasite Trypanosoma cruzi. Infection is most commonly acquired through contact with the feces of an infected triatomine bug (or ""kissing bug""), a blood-sucking insect that feeds on humans and animals. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - American Trypanosomiasis (also known as Chagas Disease) ? ### Response: The diagnosis of Chagas disease can be made by observation of the parasite in a blood smear by microscopic examination. A thick and thin blood smear are made and stained for visualization of parasites. However, a blood smear works well only in the acute phase of infection when parasites are seen circulating in blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - American Trypanosomiasis (also known as Chagas Disease) ? ### Response: Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - American Trypanosomiasis (also known as Chagas Disease) ? ### Response: In endemic areas of Mexico, Central America, and South America improved housing and spraying insecticide inside housing to eliminate triatomine bugs has significantly decreased the spread of Chagas disease. Further, screening of blood donations for Chagas is another important public health tool in helping to prevent transfusion-acquired disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Nocardiosis? ? ### Response: The bacteria that cause nocardiosis are commonly found in soil and water. You could become sick with nocardiosis if: - You inhale (breathe in) the bacteria - Bacteria gets into an open wound or cut In rare cases, infection can occur during surgical procedures. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Nocardiosis? ? ### Response: People with very weak immune (body defense) systems are at risk for getting nocardiosis. Several diseases and circumstances can cause the immune system to be weak. These include: - Diabetes - Cancer - HIV/AIDS - Pulmonary alveolar proteinosis (an illness that causes the air sacs of the lungs to become plugged) " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nocardiosis ? ### Response: The symptoms of nocardiosis vary depending on which part of your body is affected. Nocardiosis infection most commonly occurs in the lung. If your lungs are infected, you can experience: - Fever - Weight loss - Night sweats - Cough " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nocardiosis ? ### Response: If you think you might be sick with nocardiosis, talk to your doctor. He or she can help find out if you have the disease by performing tests that can identify the bacteria that causes nocardiosis. Testing may involve taking tissue samples from the part of the body that is infected. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Chapare Hemorrhagic Fever (CHHF)? ? ### Response: Like all arenaviruses, Chapare virus has a rodent host as its reservoir. Humans can contract CHHF through contact with an infected rodent. Contact can be direct or through inhalation of aerosolized Chapare virus from the urine or feces of infected rodents. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chapare Hemorrhagic Fever (CHHF) ? ### Response: The symptoms of CHHF, as reported in the only described patient, resemble those of other South American hemorrhagic fevers, such as Argentine HF or Bolivian HF. The incubation period is unknown, but for Argentine hemorrhagic fever (AHF) is 6 to 16 days. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chapare Hemorrhagic Fever (CHHF) ? ### Response: CHHF virus has been successfully isolated from both blood and serum during the acute febrile phase of illness. Although not undertaken at the time of the initial cluster, virus can certainly be isolated from tissue obtained post-mortem if available. A subsequent complete genomic analysis of Chapare virus facilitated the development of specific molecular detection (RT-PCR) assays. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chapare Hemorrhagic Fever (CHHF) ? ### Response: Supportive therapy is important in CHHF. This includes: - maintenance of hydration - management of shock - sedation - pain relief - usual precautions for patients with bleeding disorders - transfusions (when necessary) " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Chapare Hemorrhagic Fever (CHHF) ? ### Response: Although rodent control would be desirable, it will not be a successful strategy for preventing Chapare hemorrhagic fever cases caused by exposures outdoors. As for other hemorrhagic fevers, full barrier nursing procedures should be implemented during management of suspected or confirmed CHHF cases. " "Below is an instruction from Human. Write a response. ### Instruction: what is yersiniosis for Yersinia ? ### Response: Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. " "Below is an instruction from Human. Write a response. ### Instruction: how common is infection with y. enterocolitica for Yersinia ? ### Response: Y. enterocolitica is a relatively infrequent cause of diarrhea and abdominal pain. Based on data from the Foodborne Diseases Active Surveillance Network (FoodNet), which measures the burden and sources of specific diseases over time, approximately one culture-confirmed Y. " "Below is an instruction from Human. Write a response. ### Instruction: how can y. enterocolitica infections be diagnosed for Yersinia ? ### Response: Y. enterocolitica infections are generally diagnosed by detecting the organism in the stools. Many laboratories do not routinely test for Y. enterocolitica,so it is important to notify laboratory personnel when infection with this bacterium is suspected so that special tests can be done. " "Below is an instruction from Human. Write a response. ### Instruction: how can y. enterocolitica infections be treated for Yersinia ? ### Response: Uncomplicated cases of diarrhea due to Y. enterocolitica usually resolve on their own without antibiotic treatment. However, in more severe or complicated infections, antibiotics such as aminoglycosides, doxycycline, trimethoprim-sulfamethoxazole, or fluoroquinolones may be useful. " "Below is an instruction from Human. Write a response. ### Instruction: what are public health agencies doing to prevent or control yersiniosis for Yersinia ? ### Response: The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. " "Below is an instruction from Human. Write a response. ### Instruction: what are public health agencies doing to prevent or control yersiniosis for Yersinia ? ### Response: The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Lymphatic Filariasis? ? ### Response: There are three different filarial species that can cause lymphatic filariasis in humans. Most of the infections worldwide are caused by Wuchereria bancrofti. In Asia, the disease can also be caused by Brugia malayi and Brugia timori. The infection spreads from person to person by mosquito bites. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Lymphatic Filariasis ? ### Response: The standard method for diagnosing active infection is the identification of microfilariae in a blood smear by microscopic examination. The microfilariae that cause lymphatic filariasis circulate in the blood at night (called nocturnal periodicity). Blood collection should be done at night to coincide with the appearance of the microfilariae, and a thick smear should be made and stained with Giemsa or hematoxylin and eosin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Lymphatic Filariasis ? ### Response: Patients currently infected with the parasite Diethylcarbamazine (DEC) is the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Lymphatic Filariasis ? ### Response: The best way to prevent lymphatic filariasis is to avoid mosquito bites. The mosquitoes that carry the microscopic worms usually bite between the hours of dusk and dawn. If you live in an area with lymphatic filariasis: - at night - sleep in an air-conditioned room or " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Lymphatic Filariasis ? ### Response: The best way to prevent lymphatic filariasis is to avoid mosquito bites. The mosquitoes that carry the microscopic worms usually bite between the hours of dusk and dawn. If you live in an area with lymphatic filariasis: - at night - sleep in an air-conditioned room or " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Loiasis? ? ### Response: Loa loa parasites are found in West and Central Africa. Ten countries have areas where there are high rates of infection (i.e., where more than 40% of the people who live in that area report that they have had eye worm in the past). An estimated 14.4 million people live in these areas of high rates of infection. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Loiasis ? ### Response: In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways: - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Loiasis ? ### Response: Decisions about treatment of loiasis can be difficult and often require advice from an expert in infectious diseases or tropical medicine. Although surgical removal of adult worms moving under the skin or across the eye can be done to relieve anxiety, loiasis is not cured by surgery alone. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Loiasis ? ### Response: There are no programs to control or eliminate loiasis in affected areas. Your risk of infection may be less in areas where communities receive regular treatment for onchocerciasis or lymphatic filariasis. There are no vaccines that protect you from loiasis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? ### Response: Humans can become infected through tick bites or through contact with the blood, feces, or urine of an infected, sick, or dead animal – most commonly, rodents. Occupational and recreational activities such as hunting or trapping may increase human risk of infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Omsk Hemorrhagic Fever (OHF) ? ### Response: After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? ### Response: In areas where rodent reservoirs and tick species are prevalent, people with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, campers, forest workers, farmers) are potentially at increased risk for OHF by contact with infected ticks and animals. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? ### Response: In areas where rodent reservoirs and tick species are prevalent, people with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, campers, forest workers, farmers) are potentially at increased risk for OHF by contact with infected ticks and animals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Omsk Hemorrhagic Fever (OHF) ? ### Response: There is no specific treatment for OHF, but supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders. Though rare, OHF can cause hearing loss, hair loss, and behavioral or psychological difficulties associated with neurological conditions and long term supportive case may be needed. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Omsk Hemorrhagic Fever (OHF) ? ### Response: There is no vaccine currently available for OHF, but vaccines for tick-borne encephalitis disease (TBE) have been shown to confer some immunity and may be used for high-risk groups. Additionally, utilizing insect repellents and wearing protective clothing in areas where ticks are endemic is recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Enterobiasis (also known as Pinworm Infection) ? ### Response: A pinworm (""threadworm"") is a small, thin, white roundworm (nematode) called Enterobius vermicularis that sometimes lives in the colon and rectum of humans. Pinworms are about the length of a staple. While an infected person sleeps, female pinworms leave the intestine through the anus and deposit their eggs on the surrounding skin. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Enterobiasis (also known as Pinworm Infection)? ? ### Response: Risk Factors The people most likely to be infected with pinworm are children under 18, people who take care of infected children and people who are institutionalized. In these groups, the prevalence can reach 50%. Pinworm is the most common worm infection in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Enterobiasis (also known as Pinworm Infection) ? ### Response: A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Enterobiasis (also known as Pinworm Infection) ? ### Response: The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Enterobiasis (also known as Pinworm Infection) ? ### Response: Washing your hands with soap and warm water after using the toilet, changing diapers, and before handling food is the most successful way to prevent pinworm infection. In order to stop the spread of pinworm and possible re-infection, people who are infected should bathe every morning to help remove a large amount of the eggs on the skin. " "Below is an instruction from Human. Write a response. ### Instruction: how is hps diagnosed and treated for Hantavirus ? ### Response: Diagnosing HPS Diagnosing HPS in an individual who has only been infected a few days is difficult, because early symptoms such as fever, muscle aches, and fatigue are easily confused with influenza. However, if the individual is experiencing fever and fatigue and has a history of potential rural rodent exposure, together with shortness of breath, would be strongly suggestive of HPS. " "Below is an instruction from Human. Write a response. ### Instruction: what are the symptoms for Hantavirus ? ### Response: Due to the small number of HPS cases, the ""incubation time"" is not positively known. However, on the basis of limited information, it appears that symptoms may develop between 1 and 5 weeks after exposure to fresh urine, droppings, or saliva of infected rodents. " "Below is an instruction from Human. Write a response. ### Instruction: how can hps be prevented for Hantavirus ? ### Response: Eliminate or minimize contact with rodents in your home, workplace, or campsite. If rodents don't find that where you are is a good place for them to be, then you're less likely to come into contact with them. Seal up holes and gaps in your home or garage. Place traps in and around your home to decrease rodent infestation. " "Below is an instruction from Human. Write a response. ### Instruction: what is the history of hps for Hantavirus ? ### Response: The ""First""Outbreak In May 1993, an outbreak of an unexplained pulmonary illness occurred in the southwestern United States, in an area shared by Arizona, New Mexico, Colorado and Utah known as ""The Four Corners"". A young, physically fit Navajo man suffering from shortness of breath was rushed to a hospital in New Mexico and died very rapidly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Q Fever ? ### Response: Q fever can cause acute or chronic illness in humans, who usually acquire infection after contact with infected animals or exposure to contaminated environments. The acute symptoms caused by infection with Coxiella burnetii usually develop within 2-3 weeks of exposure, although as many as half of humans infected withC. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Q Fever ? ### Response: More detailed information on the diagnosis, management, and treatment of Q fever is available in other sections of this web site and in the materials referenced in the section titled “Further Reading”. How to Contact the Rickettsial Zoonoses Branch at CDC " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Q Fever ? ### Response: In the United States, Q fever outbreaks have resulted mainly from occupational exposure involving veterinarians, meat processing plant workers, sheep and dairy workers, livestock farmers, and researchers at facilities housing sheep. Prevention and control efforts should be directed primarily toward these groups and environments. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hendra Virus Disease (HeV)? ? ### Response: Transmission of Hendra virus to humans can occur after exposure to body fluids and tissues or excretions of horses infected with Hendra virus. Horses may be infected after exposure to virus in the urine of infected flying foxes. To date, no human-to-human transmission has been documented. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hendra Virus Disease (HeV) ? ### Response: After an incubation of 9-16 days, infection with Hendra virus can lead to respiratory illness with severe flu-like signs and symptoms. In some cases, illness may progress to encephalitis. Although infection with Hendra virus is rare, the case fatality is high: 4/7 (57%). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hendra Virus Disease (HeV)? ? ### Response: Australia’s “Flying fox” bats (genus Pteropus) are the natural reservoir of Hendra virus. Serologic evidence for HeV infection have been found in all fours species of Australian flying foxes, but spillover of the virus in horses is limited to coastal and forested regions in Australia (Queensland and New South Wales states) (see Henipavirus Distribution Map). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hendra Virus Disease (HeV) ? ### Response: Laboratory tests that are used to diagnose Hendra virus (HV) and Nipah virus (NV) include detection of antibody by ELISA (IgG and IgM), real time polymerase chain reaction (RT-PCR), and virus isolation attempts. In most countries, handling Hendra virus needs to be done in high containment laboratories. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hendra Virus Disease (HeV) ? ### Response: The drug ribavirin has been shown to be effective against the viruses in vitro, but the clinical usefulness of this drug is uncertain. A post-exposure therapy with a Nipah/Hendra neutralizing antibody, efficacious in animal models is in human preclinical development stages in Australia. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hendra Virus Disease (HeV) ? ### Response: The occurrence of the disease in humans has been associated only with infection of an intermediate species such as horses. Early recognition of the disease in the intermediate animal host is probably the most crucial means of limiting future human cases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Zoonotic Hookworm ? ### Response: There are many different species of hookworms, some are human parasites and some are animal parasites. People can be infected by larvae of animal hookworms, usually dog and cat hookworms. The most common result of animal hookworm infection is a skin condition called cutaneous larva migrans. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Zoonotic Hookworm? ? ### Response: Dog and cat hookworms are found throughout the world, especially in warmer climates. In the United States, zoonotic hookworms are found everywhere but more commonly along the East Coast than the West Coast. Worldwide, zoonotic hookworms are found in tropical and subtropical regions where the parasite is better able to survive because of environmental conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Zoonotic Hookworm ? ### Response: Cutaneous larva migrans (CLM) is a clinical diagnosis based on the presence of the characteristic signs and symptoms, and exposure history to zoonotic hookworm. For example, the diagnosis can be made based on finding red, raised tracks in the skin that are very itchy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Zoonotic Hookworm ? ### Response: The zoonotic hookworm larvae that cause cutaneous larva migrans (CLM) usually do not survive more than 5 – 6 weeks in the human host. In most patients with CLM, the signs and symptoms resolve without medical treatment. However, treatment may help control symptoms and help prevent secondary bacterial infections. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Zoonotic Hookworm ? ### Response: Wearing shoes and taking other protective measures to avoid skin contact with sand or soil will prevent infection with zoonotic hookworms. Travelers to tropical and subtropical climates, especially where beach exposures are likely, should be advised to wear shoes and use protective mats or other coverings to prevent direct skin contact with sand or soil. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Fatigue Syndrome (CFS) ? ### Response: Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic Fatigue Syndrome (CFS) ? ### Response: Despite a vigorous search, scientists have not yet identified what causes CFS. While a single cause for CFS may yet be identified, another possibility is that CFS has multiple causes. Conditions that have been studied to determine if they cause or trigger the development of CFS include infections, immune disorders, stress, trauma, and toxins. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic Fatigue Syndrome (CFS) ? ### Response: Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome (CFS) can be complicated by a number of factors: - There's no lab test or biomarker for CFS. - Fatigue and other symptoms of CFS are common to many illnesses. - For some CFS patients, it may not be obvious to doctors that they are ill. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic Fatigue Syndrome (CFS) ? ### Response: Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms are similar to so many other illnesses. Fatigue, for instance, can be a symptom for hundreds of illnesses. Looking closer at the nature of the symptoms though, can help a doctor distinguish CFS from other illnesses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Fatigue Syndrome (CFS) ? ### Response: Introduction Managing chronic fatigue syndrome can be as complex as the illness itself. There is no cure, no prescription drugs have been developed specifically for CFS, and symptoms can vary a lot over time. Thus, people with CFS should closely monitor their health and let their doctor know of any changes; and doctors should regularly monitor their patients' conditions and change treatment strategies as needed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rocky Mountain Spotted Fever (RMSF) ? ### Response: The first symptoms of Rocky Mountain spotted fever (RMSF) typically begin 2-14 days after the bite of an infected tick. A tick bite is usually painless and about half of the people who develop RMSF do not remember being bitten. The disease frequently begins as a sudden onset of fever and headache and most people visit a healthcare provider during the first few days of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rocky Mountain Spotted Fever (RMSF) ? ### Response: More detailed information on the diagnosis, management, and treatment of tickborne rickettsial diseases is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rocky Mountain Spotted Fever (RMSF) ? ### Response: More detailed information on the diagnosis, management, and treatment of tickborne rickettsial diseases is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - African Trypanosomiasis (also known as Sleeping Sickness)? ? ### Response: There are two subspecies of the parasite Trypanosoma brucei that cause disease in humans. The clinical features of the infection depend on the subspecies involved. The two subspecies are found in different regions of Africa. At present, there is no overlap in their geographic distribution. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ? ### Response: The diagnosis of African Trypanosomiasis is made through laboratory methods, because the clinical features of infection are not sufficiently specific. The diagnosis rests on finding the parasite in body fluid or tissue by microscopy. The parasite load in T. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ? ### Response: All persons diagnosed with African Trypanosomiasis should receive treatment. The specific drug and treatment course will depend on the type of infection (T. b. gambiense or T. b. rhodesiense) and the disease stage (i.e. whether the central nervous system has been invaded by the parasite). " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ? ### Response: There is no vaccine or drug for prophylaxis against African trypanosomiasis. Preventive measures are aimed at minimizing contact with tsetse flies. Local residents are usually aware of the areas that are heavily infested and they can provide advice about places to avoid. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Varicella (Chickenpox) Vaccination ? ### Response: At a Glance Vaccine-preventable disease levels are at or near record lows. Even though most infants and toddlers have received all recommended vaccines by age 2, many under-immunized children remain, leaving the potential for outbreaks of disease. Many adolescents and adults are under-immunized as well, missing opportunities to protect themselves against diseases such as Hepatitis B, influenza, and pneumococcal disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Fascioliasis (Fasciola Infection) ? ### Response: Fascioliasis is an infectious disease caused by Fasciola parasites, which are flat worms referred to as liver flukes. The adult (mature) flukes are found in the bile ducts and liver of infected people and animals, such as sheep and cattle. In general, fascioliasis is more common in livestock and other animals than in people. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Fascioliasis (Fasciola Infection)? ? ### Response: Fascioliasis occurs in many areas of the world and usually is caused by F. hepatica, which is a common liver fluke of sheep and cattle. In general, fascioliasis is more common and widespread in animals than in people. Even so, the number of infected people in the world is thought to exceed 2 million. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Fascioliasis (Fasciola Infection) ? ### Response: The standard way to be sure a person is infected with Fasciola is by seeing the parasite. This is usually done by finding Fasciola eggs in stool (fecal) specimens examined under a microscope. More than one specimen may need to be examined to find the parasite. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Fascioliasis (Fasciola Infection) ? ### Response: The first step is to make sure the diagnosis is correct. For more information, patients should consult their health care provider. Health care providers may consult with CDC staff about the diagnosis and treatment of fascioliasis. The drug of choice is triclabendazole. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Fascioliasis (Fasciola Infection) ? ### Response: No vaccine is available to protect people against Fasciola infection. In some areas of the world where fascioliasis is found (endemic), special control programs are in place or are planned. The types of control measures depend on the setting (such as epidemiologic, ecologic, and cultural factors). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anaplasmosis ? ### Response: Anaplasmosis is a disease caused by the bacterium Anaplasma phagocytophilium. This pathogen is transmitted to humans by the bite of an infected tick. The black-legged tick (Ixodes scapularis) is the vector of A. phagocytophilum in the northeast and upper midwestern United States. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anaplasmosis ? ### Response: More detailed information on the diagnosis, management, and treatment of anaplasmosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. *Case definitions have been updated since publication " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Echinococcosis ? ### Response: Frequently Asked Questions (FAQs) Cystic echinococcosis (CE) disease results from being infected with the larval stage of Echinococcus granulosus, a tiny tapeworm (~2-7 millimeters in length) found in dogs (definitive host), sheep, cattle, goats, foxes, and pigs, amongst others (intermediate hosts). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Echinococcosis? ? ### Response: Cystic echinococcosis (CE) is caused by infection with the larval stage of Echinococcus granulosus. CE is found in Africa, Europe, Asia, the Middle East, Central and South America, and in rare cases, North America. The parasite is transmitted to dogs when they ingest the organs of other animals that contain hydatid cysts. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Echinococcosis ? ### Response: The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Echinococcosis ? ### Response: In the past, surgery was the only treatment for cystic echinococcal cysts. Chemotherapy, cyst puncture, and PAIR (percutaneous aspiration, injection of chemicals and reaspiration) have been used to replace surgery as effective treatments for cystic echinococcosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Echinococcosis ? ### Response: Cystic echinococcosis is controlled by preventing transmission of the parasite. Prevention measures include limiting the areas where dogs are allowed and preventing animals from consuming meat infected with cysts. - Prevent dogs from feeding on the carcasses of infected sheep. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ? ### Response: Angiostrongylus cantonensis is a parasitic worm of rats. It is also called the rat lungworm. The adult form of the parasite is found only in rodents. Infected rats pass larvae of the parasite in their feces. Snails and slugs get infected by ingesting the larvae. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ? ### Response: Angiostrongylus cantonensis There is no specific treatment for A. cantonensis infection. There is some evidence that certain supportive treatments may reduce the severity of headache and the duration of symptoms. Persons with symptoms should consult their health care provider for more information. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Typhoid Fever ? ### Response: Persons with typhoid fever usually have a sustained fever as high as 103° to 104° F (39° to 40° C). They may also feel weak, or have stomach pains, headache, or loss of appetite. In some cases, patients have a rash of flat, rose-colored spots. The only way to know for sure if an illness is typhoid fever is to have samples of stool or blood tested for the presence of Salmonella Typhi. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Ascariasis? ? ### Response: Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer. Geographic Distribution The geographic distributions of Ascaris are worldwide in areas with warm, moist climates and are widely overlapping. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Ascariasis? ? ### Response: Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer. Geographic Distribution The geographic distributions of Ascaris are worldwide in areas with warm, moist climates and are widely overlapping. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Ascariasis ? ### Response: Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Ascariasis ? ### Response: The best way to prevent ascariasis is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (""night soil"") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose 2009 H1N1 Flu ? ### Response: Content on this page was developed during the 2009-2010 H1N1 pandemic and has not been updated. - The H1N1 virus that caused that pandemic is now a regular human flu virus and continues to circulate seasonally worldwide. - The English language content on this website is being archived for historic and reference purposes only. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 2009 H1N1 Flu ? ### Response: Content on this page was developed during the 2009-2010 H1N1 pandemic and has not been updated. - The H1N1 virus that caused that pandemic is now a regular human flu virus and continues to circulate seasonally worldwide. - The English language content on this website is being archived for historic and reference purposes only. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Crimean-Congo Hemorrhagic Fever (CCHF)? ? ### Response: Ixodid (hard) ticks, especially those of the genus, Hyalomma, are both a reservoir and a vector for the CCHF virus. Numerous wild and domestic animals, such as cattle, goats, sheep and hares, serve as amplifying hosts for the virus. Transmission to humans occurs through contact with infected ticks or animal blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crimean-Congo Hemorrhagic Fever (CCHF) ? ### Response: The onset of CCHF is sudden, with initial signs and symptoms including headache, high fever, back pain, joint pain, stomach pain, and vomiting. Red eyes, a flushed face, a red throat, and petechiae (red spots) on the palate are common. Symptoms may also include jaundice, and in severe cases, changes in mood and sensory perception. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Crimean-Congo Hemorrhagic Fever (CCHF)? ? ### Response: Animal herders, livestock workers, and slaughterhouse workers in endemic areas are at risk of CCHF. Healthcare workers in endemic areas are at risk of infection through unprotected contact with infectious blood and body fluids. Individuals and international travelers with contact to livestock in endemic regions may also be exposed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crimean-Congo Hemorrhagic Fever (CCHF) ? ### Response: Treatment for CCHF is primarily supportive. Care should include careful attention to fluid balance and correction of electrolyte abnormalities, oxygenation and hemodynamic support, and appropriate treatment of secondary infections. The virus is sensitive in vitro to the antiviral drug ribavirin. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Crimean-Congo Hemorrhagic Fever (CCHF) ? ### Response: Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Eastern Equine Encephalitis ? ### Response: There is no vaccine against Eastern equine encephalitis virus (EEEV) for humans. Reducing exposure to mosquitoes is the best defense against infection with EEEV and other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lujo Hemorrhagic Fever (LUHF) ? ### Response: The symptoms of Lujo hemorrhagic fever, as described in the five patients in the original cluster outbreak, resemble those of severe Lassa Fever. After an incubation period of 7 to 13 days, the clinical course started by a non-specific febrile illness accompanied by headache and muscle pain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ? ### Response: Lujo hemorrhagic fever (LUHF) occurs in southern Africa. The initial case was certainly infected in Zambia. Field workers Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lujo Hemorrhagic Fever (LUHF) ? ### Response: During the acute febrile phase, Lujo virus was isolated from blood from days 2 to 13 after onset. Virus was also isolated from liver tissue obtained post-mortem. A subsequent complete genomic analysis of Lujo virus facilitated the development of specific molecular detection (RT-PCR) assays. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lujo Hemorrhagic Fever (LUHF) ? ### Response: Supportive therapy is important in Lujo hemorrhagic fever. This includes: - maintenance of hydration - management of shock - sedation - pain relief - usual precautions for patients with bleeding disorders - transfusions (when necessary) " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Lujo Hemorrhagic Fever (LUHF) ? ### Response: Although rodent control would be desirable, it will not be a successful strategy for preventing Lujo hemorrhagic fever cases caused by exposures outdoors. As for other hemorrhagic fevers, full barrier nursing procedures should be implemented during management of suspected or confirmed LUHF cases (no infection occurred after their implementation in South Africa). " "Below is an instruction from Human. Write a response. ### Instruction: how vaccines prevent disease ### Response: Why Are Childhood Vaccines So Important? It is always better to prevent a disease than to treat it after it occurs. Diseases that used to be common in this country and around the world, including polio, measles, diphtheria, pertussis (whooping cough), rubella (German measles), mumps, tetanus, rotavirus and Haemophilus influenzae type b (Hib) can now be prevented by vaccination. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for ? ? ### Response: Measles: Make Sure Your Child Is Protected with MMR Vaccine Measles starts with a fever. Soon after, it causes a cough, runny nose, and red eyes. Then a rash of tiny, red spots breaks out. Measles can be serious for young children. Learn about protecting your child from measles with MMR vaccine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ehrlichiosis ? ### Response: Symptoms In the United States, the term “ehrlichiosis” may be broadly applied to several different infections. Ehrlichia chaffeensis and Ehrlichia ewingii are transmitted by the lonestar tick in the southeastern and southcentral United States. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehrlichiosis ? ### Response: More detailed information on the diagnosis, management, and treatment of ehrlichiosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acinetobacter in Healthcare Settings ? ### Response: Acinetobacter causes a variety of diseases, ranging from pneumonia to serious blood or wound infections, and the symptoms vary depending on the disease. Acinetobacter may also “colonize” or live in a patient without causing infection or symptoms, especially in tracheostomy sites or open wounds. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Acinetobacter in Healthcare Settings? ? ### Response: Acinetobacter poses very little risk to healthy people. However, people who have weakened immune systems, chronic lung disease, or diabetes may be more susceptible to infections with Acinetobacter. Hospitalized patients, especially very ill patients on a ventilator, those with a prolonged hospital stay, those who have open wounds, or any person with invasive devices like urinary catheters are also at greater risk for Acinetobacter infection. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Acinetobacter in Healthcare Settings? ? ### Response: Acinetobacter poses very little risk to healthy people. However, people who have weakened immune systems, chronic lung disease, or diabetes may be more susceptible to infections with Acinetobacter. Hospitalized patients, especially very ill patients on a ventilator, those with a prolonged hospital stay, those who have open wounds, or any person with invasive devices like urinary catheters are also at greater risk for Acinetobacter infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acinetobacter in Healthcare Settings ? ### Response: Acinetobacter is often resistant to many commonly prescribed antibiotics. Decisions on treatment of infections with Acinetobacter should be made on a case-by-case basis by a healthcare provider. Acinetobacter infection typically occurs in ill patients and can either cause or contribute to death in these patients. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tuberculosis (TB) ? ### Response: Tuberculosis (TB) is a disease that is spread through the air from one person to another. There are two kinds of tests that are used to determine if a person has been infected with TB bacteria: the tuberculin skin test and TB blood tests. A positive TB skin test or TB blood test only tells that a person has been infected with TB bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Tuberculosis (TB) ? ### Response: Infection Control in Health Care Settings Tuberculosis (TB) transmission has been documented in health care settings where health care workers and patients come in contact with people who have TB disease. People who work or receive care in health care settings are at higher risk for becoming infected with TB; therefore, it is necessary to have a TB infection control plan as part of a general infection control program designed to ensure the following: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tuberculosis (TB) ? ### Response: Tuberculosis (TB) is caused by a bacterium called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but TB bacteria can attack any part of the body such as the kidney, spine, and brain. If not treated properly, TB disease can be fatal. Not everyone infected with TB bacteria becomes sick. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tuberculosis (TB) ? ### Response: The Division of Tuberculosis Elimination (DTBE) Laboratory Branch (LB) provides services for the following tests on mycobacterial cultures. Any local health department, licensed physician's office, licensed laboratory or licensed health care facility may submit cultures for testing but they must be routed through either their state health department or other authorized facility. " "Below is an instruction from Human. Write a response. ### Instruction: what research is being done for Tuberculosis (TB) ? ### Response: TB Epidemiologic Studies Consortium The TB Epidemiologic Studies Consortium (TBESC) was established to strengthen, focus, and coordinate tuberculosis (TB) research. The TBESC is designed to build the scientific research capacities of state and metropolitan TB control programs, participating laboratories, academic institutions, hospitals, and both non- and for-profit organizations. " "Below is an instruction from Human. Write a response. ### Instruction: what research is being done for Tuberculosis (TB) ? ### Response: TB Epidemiologic Studies Consortium The TB Epidemiologic Studies Consortium (TBESC) was established to strengthen, focus, and coordinate tuberculosis (TB) research. The TBESC is designed to build the scientific research capacities of state and metropolitan TB control programs, participating laboratories, academic institutions, hospitals, and both non- and for-profit organizations. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Lice - Pubic ""Crab"" Lice ? ### Response: Pubic (""crab"") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat. The following are steps that can be taken to help prevent and control the spread of pubic (""crab"") lice: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Lice - Pubic ""Crab"" Lice ? ### Response: Pubic (""crab"") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat. The following are steps that can be taken to help prevent and control the spread of pubic (""crab"") lice: " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Paragonimiasis (also known as Paragonimus Infection)? ? ### Response: Several species of Paragonimus cause most infections; the most important is P. westermani, which occurs primarily in Asia including China, the Philippines, Japan, Vietnam, South Korea, Taiwan, and Thailand. P. africanus causes infection in Africa, and P. mexicanus in Central and South America. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Paragonimiasis (also known as Paragonimus Infection) ? ### Response: The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen. Specific and sensitive antibody tests based on P. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Paragonimiasis (also known as Paragonimus Infection) ? ### Response: The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen. Specific and sensitive antibody tests based on P. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Paragonimiasis (also known as Paragonimus Infection) ? ### Response: The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen. Specific and sensitive antibody tests based on P. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kyasanur Forest Disease (KFD)? ? ### Response: Transmission to humans may occur after a tick bite or contact with an infected animal, most importantly a sick or recently dead monkey. No person-to-person transmission has been described. Large animals such as goats, cows, and sheep may become infected with KFD but play a limited role in the transmission of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kyasanur Forest Disease (KFD) ? ### Response: After an incubation period of 3-8 days, the symptoms of KFD begin suddenly with chills, fever, and headache. Severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems may occur 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure, and low platelet, red blood cell, and white blood cell counts. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kyasanur Forest Disease (KFD)? ? ### Response: KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kyasanur Forest Disease (KFD)? ? ### Response: KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kyasanur Forest Disease (KFD)? ? ### Response: KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kyasanur Forest Disease (KFD)? ? ### Response: KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kyasanur Forest Disease (KFD)? ? ### Response: KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Cyclosporiasis (Cyclospora Infection)? ? ### Response: People become infected with Cyclospora by ingesting sporulated oocysts, which are the infective form of the parasite. This most commonly occurs when food or water contaminated with feces is consumed. An infected person sheds unsporulated (immature, non-infective) Cyclospora oocysts in the feces. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Cyclosporiasis (Cyclospora Infection) ? ### Response: Clinical Diagnosis Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Cyclosporiasis (Cyclospora Infection) ? ### Response: Trimethoprim/sulfamethoxazole (TMP/SMX), sold under the trade names Bactrim*, Septra*, and Cotrim*, is the usual therapy for Cyclospora infection. No highly effective alternative antibiotic regimen has been identified yet for patients who do not respond to the standard treatment or have a sulfa allergy. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Cyclosporiasis (Cyclospora Infection) ? ### Response: On the basis of the currently available information, avoiding food or water that may have been contaminated with feces is the best way to prevent cyclosporiasis. Treatment with chlorine or iodine is unlikely to kill Cyclospora oocysts. No vaccine for cyclosporiasis is available. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parasites - Trichinellosis (also known as Trichinosis)? ? ### Response: People acquire trichinellosis by consuming raw or undercooked meat infected with the Trichinella parasite, particularly wild game meat or pork. Even tasting very small amounts of undercooked meat during preparation or cooking puts you at risk for infection. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parasites - Trichinellosis (also known as Trichinosis) ? ### Response: A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat. Laboratory diagnosis of Trichinella infection is most often made by a Trichinella antibody test. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parasites - Trichinellosis (also known as Trichinosis) ? ### Response: Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Parasites - Trichinellosis (also known as Trichinosis) ? ### Response: - Wash your hands with warm water and soap after handling raw meat. - Curing (salting), drying, smoking, or microwaving meat alone does not consistently kill infective worms; homemade jerky and sausage were the cause of many cases of trichinellosis reported to CDC in recent years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Striatonigral Degeneration ? ### Response: Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Striatonigral Degeneration ? ### Response: There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Striatonigral Degeneration ? ### Response: There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Striatonigral Degeneration ? ### Response: There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Empty Sella Syndrome ? ### Response: Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Empty Sella Syndrome ? ### Response: Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, surgery may be needed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Empty Sella Syndrome ? ### Response: Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, surgery may be needed. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Empty Sella Syndrome ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS supports and conducts fundamental studies that explore the complex mechanisms of normal brain development and to better understand neurological conditions such as ESS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Lateral Sclerosis ? ### Response: Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Lateral Sclerosis ? ### Response: Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Lateral Sclerosis ? ### Response: Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Lateral Sclerosis ? ### Response: Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dystonias ? ### Response: The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dystonias ? ### Response: No one treatment has been found to be universally effective. Instead, doctors use a variety of therapies (medications, surgery, and other treatments such as physical therapy, splinting, stress management, and biofeedback) aimed at reducing or eliminating muscle spasms and pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dystonias ? ### Response: The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dystonias ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to dystonia in its laboratories at the National Institutes of Health (NIH) and also supports additional dystonia research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Farber's Disease ? ### Response: Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Farber's Disease ? ### Response: Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Farber's Disease ? ### Response: Most children with the classic form of Farbers disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Farber's Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Research funded by the NINDS focuses on better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies and pharmacological approaches. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial Periodic Paralyses ? ### Response: Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial Periodic Paralyses ? ### Response: Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial Periodic Paralyses ? ### Response: Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial Periodic Paralyses ? ### Response: Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Injury ? ### Response: A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spinal Cord Injury ? ### Response: Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Spinal Cord Injury ? ### Response: Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Spinal Cord Injury ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts spinal cord research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Todd's Paralysis ? ### Response: Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Todd's Paralysis ? ### Response: Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Todd's Paralysis ? ### Response: Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Todd's Paralysis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Syncope ? ### Response: Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Syncope ? ### Response: The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below their shoulders and between their knees. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Syncope ? ### Response: Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Syncope ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to syncope in laboratories at the NIH and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral Palsy ? ### Response: The term cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement, muscle coordination, and balance.CP affects the part of the brain that controls muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebral Palsy ? ### Response: Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cerebral Palsy ? ### Response: Cerebral palsy doesnt always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. Many children with CP have average to above average intelligence and attend the same schools as other children their age. Supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cerebral Palsy ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tuberous Sclerosis ? ### Response: Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tuberous Sclerosis ? ### Response: There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Tuberous Sclerosis ? ### Response: The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Tuberous Sclerosis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists in one study are learning more about the genes that can cause TSC and the function of the proteins those genes produce. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Batten Disease ? ### Response: Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Batten Disease ? ### Response: As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Batten Disease ? ### Response: Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Batten Disease ? ### Response: The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holoprosencephaly ? ### Response: Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holoprosencephaly ? ### Response: Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holoprosencephaly ? ### Response: Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Holoprosencephaly ? ### Response: The NINDS supports and conducts a wide range of studies that focus on identifying and learning more about the factors involved in normal brain development. Recent research has identified specific genes that cause holoprosencephaly. The knowledge gained from these fundamental studies provides the foundation for understanding how to develop new ways to treat, and potentially prevent, this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bell's Palsy ? ### Response: Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bell's Palsy ? ### Response: Steroids such as prednisone -- used to reduce inflammation and swelling -- are an effective treatment for Bell's palsy. Antiviral drugs may have some benefit in shortening the course of the disease. Analgesics such as aspirin, acetaminophen, or ibuprofen may relieve pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Bell's Palsy ? ### Response: The prognosis for individuals with Bell's palsy is generally very good. The extent of nerve damage determines the extent of recovery. With or without treatment, most individuals begin to get better within 2 weeks after the initial onset of symptoms and recover some or all facial function within 3 to 6 months. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Bell's Palsy ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports an extensive research program of basic science to increase understanding of how the nervous system works and circumstances that lead to nerve damage. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple System Atrophy ? ### Response: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple System Atrophy ? ### Response: There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple System Atrophy ? ### Response: There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Multiple System Atrophy ? ### Response: The NINDS supports research about MSA through grants to major medical institutions across the country. Researchers hope to learn why alpha-synuclein buildup occurs in MSA and Parkinsons disease, and how to prevent it. Drugs that reduce the abnormal alpha-sy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Giant Axonal Neuropathy ? ### Response: Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems. The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age. Signs of GAN usually begin in the peripheral nervous system, which controls movement and sensation in the arms, legs, and other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Giant Axonal Neuropathy ? ### Response: Treatment is symptomatic. Children with GAN and their families usually work with a medical team that includes a pediatric neurologist, orthopedic surgeon, physiotherapist, psychologist, and speech and occupational therapists. The major goals of treatment are to maximize intellectual and physical development and minimize their deterioration as time passes. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Giant Axonal Neuropathy ? ### Response: GAN generally progresses slowly as neurons degenerate and die. Most children have problems with walking in the early stages of the disorder. Later they may lose sensation, coordination, strength, and reflexes in their arms and legs. As time goes on, the brain and spinal cord may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Giant Axonal Neuropathy ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to GAN through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as GAN. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thoracic Outlet Syndrome ? ### Response: Treatment begins with exercise programs and physical therapy to strengthen chest muscles, restore normal posture, and relieve compression by increasing the space of the area the nerve passes through. Doctors will often prescribe non-steroidal anti-inflammatory drugs (such as naproxen or ibuprofen) for pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Thoracic Outlet Syndrome ? ### Response: The outcome for individuals with TOS varies according to type. The majority of individuals with TOS will improve with exercise and physical therapy. Vascular TOS, and true neurogenic TOS often require surgery to relieve pressure on the affected vessel or nerve. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Thoracic Outlet Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health support research in TOS through grants to major medical research institutions across the country. Much of this research focuses on finding better ways to diagnose and treat TOS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Angelman Syndrome ? ### Response: Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having ""flat heads, jerky movements, protruding tongues, and bouts of laughter. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Angelman Syndrome ? ### Response: There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Angelman Syndrome ? ### Response: Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Angelman Syndrome ? ### Response: Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inclusion Body Myositis ? ### Response: Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness. The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Inclusion Body Myositis ? ### Response: There is no cure for IBM, nor is there a standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. Some evidence suggests that intravenous immunoglobulin may have a slight, but short-lasting, beneficial effect in a small number of cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Inclusion Body Myositis ? ### Response: There is no cure for IBM, nor is there a standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. Some evidence suggests that intravenous immunoglobulin may have a slight, but short-lasting, beneficial effect in a small number of cases. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Inclusion Body Myositis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institute of Environmental Health Sciences (NIEHS) and other institutes of the National Institutes of Health (NIH) conduct research relating to IBM in laboratories at the NIH and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Subacute Sclerosing Panencephalitis ? ### Response: Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus. SSPE has been reported from all parts of the world, but it is considered a rare disease in developed countries, with fewer than 10 cases per year reported in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Subacute Sclerosing Panencephalitis ? ### Response: Currently, there is no cure for SSPE. Clinical trials of antiviral (isoprinosine and ribavirin) and immunomodulatory (interferon alpha) drugs have suggested that these types of therapies given alone or in combination halt the progression of the disease and can prolong life, but their long-term effects on individuals, and eventual outcome, are unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Subacute Sclerosing Panencephalitis ? ### Response: Most individuals with SSPE will die within 1 to 3 years of diagnosis. In a small percentage of people, the disease will progress rapidly, leading to death over a short course within three months of diagnosis. Another small group will have a chronic, slowly progressive form, some with relapses and remissions. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Subacute Sclerosing Panencephalitis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to SSPE in their clinics and laboratories and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemifacial Spasm ? ### Response: Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder occurs in both men and women, although it more frequently affects middle-aged or elderly women. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemifacial Spasm ? ### Response: Surgical treatment in the form of microvascular decompression, which relieves pressure on the facial nerve, will relieve hemifacial spasm in many cases. This intervention has significant potential side-effects, so risks and benefits have to be carefully balanced. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hemifacial Spasm ? ### Response: The prognosis for an individual with hemifacial spasm depends on the treatment and their response. Some individuals will become relatively free from symptoms with injection therapy. Some may require surgery. In most cases, a balance can be achieved, with tolerable residual symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hemifacial Spasm ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts and supports research related to hemifacial spams through grants to major research institutions across the country. Much of this research focuses on better ways to prevent, treat, and ultimately cure neurological disorders, such as hemifacial spasm. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Olivopontocerebellar Atrophy ? ### Response: There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Olivopontocerebellar Atrophy ? ### Response: There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Olivopontocerebellar Atrophy ? ### Response: The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA have been found. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multifocal Motor Neuropathy ? ### Response: Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the other in the specific muscles involved. It affects men much more than women. Symptoms also include muscle wasting, cramping, and involuntary contractions or twitching of the leg muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multifocal Motor Neuropathy ? ### Response: Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multifocal Motor Neuropathy ? ### Response: Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multifocal Motor Neuropathy ? ### Response: Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Occipital Neuralgia ? ### Response: Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Occipital Neuralgia ? ### Response: Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Occipital Neuralgia ? ### Response: Occipital neuralgia is not a life-threatening condition. Many individuals will improve with therapy involving heat, rest, anti-inflammatory medications, and muscle relaxants. Recovery is usually complete after the bout of pain has ended and the nerve damage repaired or lessened. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Occipital Neuralgia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to pain and occipital neuralgia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arachnoiditis ? ### Response: Arachnoiditis describes a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arachnoiditis ? ### Response: Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Arachnoiditis ? ### Response: Arachnoiditis is adisorder that causes chronic pain and neurological deficits and does not improve significantly with treatment.Surgery may only provide temporary relief. The outlook for someone witharachnoiditis iscomplicated by the fact that the disorder has no predictable pattern or severity of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Arachnoiditis ? ### Response: Within the NINDS research programs, arachnoiditis is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as arachnoiditis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Craniosynostosis ? ### Response: Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Craniosynostosis ? ### Response: Treatment for craniosynostosis generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull to accommodate brain growth and improve the appearance of the head. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Craniosynostosis ? ### Response: Treatment for craniosynostosis generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull to accommodate brain growth and improve the appearance of the head. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Craniosynostosis ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of brain development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cavernous Malformation ? ### Response: Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cavernous Malformation ? ### Response: The primary treatment option for a CCM is surgical removal. Radiation therapy has not been shown to be effective. The decision to operate is made based upon the risk of approaching the lesion. For example, symptomatic lesions close to the brain surface in non eloquent brain (areas for example, those areas not involved with motor function, speech, vision, hearing, memory, and learning) are very likely to be candidates for removal. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cavernous Malformation ? ### Response: Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cavernous Malformation ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Locked-In Syndrome ? ### Response: Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Locked-In Syndrome ? ### Response: There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Locked-In Syndrome ? ### Response: There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Locked-In Syndrome ? ### Response: There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Machado-Joseph Disease ? ### Response: Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a ""bull's eye"" appearance (a red ring with a clear center). " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Machado-Joseph Disease ? ### Response: Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a ""bull's eye"" appearance (a red ring with a clear center). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Machado-Joseph Disease ? ### Response: Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acid Lipase Disease ? ### Response: Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the bodys cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acid Lipase Disease ? ### Response: Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acid Lipase Disease ? ### Response: Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Acid Lipase Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipase deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Agenesis of the Corpus Callosum ? ### Response: Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent. It is caused by a disruption of brain cell migration during fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Agenesis of the Corpus Callosum ? ### Response: There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur. Associated difficulties are much more manageable with early recognition and therapy, especially therapies focusing on left/right coordination. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Agenesis of the Corpus Callosum ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trigeminal Neuralgia ? ### Response: Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain. The painseldomlasts more than a few seconds or a minute or twoper episode. The intensity of pain can be physically and mentally incapacitating. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trigeminal Neuralgia ? ### Response: Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trigeminal Neuralgia ? ### Response: Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Trigeminal Neuralgia ? ### Response: Within the NINDS research programs, trigeminal neuralgia is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as trigeminal neuralgia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuronal Migration Disorders ? ### Response: Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuronal Migration Disorders ? ### Response: Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuronal Migration Disorders ? ### Response: Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neuronal Migration Disorders ? ### Response: The NINDS conducts and supports a wide range of studies that explore the complex systems of brain development. These studies include the identification of the mechanism of action of the known causes of NMD as well as studies to identify further causes of disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autism ? ### Response: Autistic disorder (sometimes called autism or classical ASD) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autistic children have difficulties with social interaction, display problems with verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Autism ? ### Response: There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of individual children. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Autism ? ### Response: For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meningitis and Encephalitis ? ### Response: Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Causes of encephalitis and meningitis include viruses, bacteria, fungus, and parasites. Anyone can get encephalitis or meningitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meningitis and Encephalitis ? ### Response: Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Meningitis and Encephalitis ? ### Response: The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is possible. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Meningitis and Encephalitis ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SUNCT Headache ? ### Response: SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SUNCT Headache ? ### Response: These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block nerve signaling along the trigeminal nerve may provide temporary relief in some severe cases, but the headaches recurred in about 40 percent of individuals studied. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SUNCT Headache ? ### Response: These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block nerve signaling along the trigeminal nerve may provide temporary relief in some severe cases, but the headaches recurred in about 40 percent of individuals studied. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyslexia ? ### Response: Dyslexia is a brain-based type of learning disability that specifically impairs a person's ability to read. These individuals typically read at levels significantly lower than expected despite having normal intelligence. Although the disorder varies from person to person, common characteristics among people with dyslexia are difficulty with phonological processing (the manipulation of sounds), spelling, and/or rapid visual-verbal responding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyslexia ? ### Response: Dyslexia is a brain-based type of learning disability that specifically impairs a person's ability to read. These individuals typically read at levels significantly lower than expected despite having normal intelligence. Although the disorder varies from person to person, common characteristics among people with dyslexia are difficulty with phonological processing (the manipulation of sounds), spelling, and/or rapid visual-verbal responding. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dyslexia ? ### Response: For those with dyslexia, the prognosis is mixed. The disability affects such a wide range of people and produces such different symptoms and varying degrees of severity that predictions are hard to make. The prognosis is generally good, however, for individuals whose dyslexia is identified early, who have supportive family and friends and a strong self-image, and who are involved in a proper remediation program. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aphasia ? ### Response: Aphasia is a neurological disorder caused by damage to the portions of the brain that are responsible for language production or processing. It may occur suddenly or progressively, depending on the type and location of brain tissue involved. Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aphasia ? ### Response: In some instances, an individual will completely recover from aphasia without treatment. In most cases, however, language therapy should begin as soon as possible and be tailored to the individual needs of the person. Rehabilitation with a speech pathologist involves extensive exercises in which individuals read, write, follow directions, and repeat what they hear. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Aphasia ? ### Response: The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Aphasia ? ### Response: The National Institute of Neurological Disorders and Stroke and the National Institute on Deafness and Other Communication Disorders conduct and support a broad range of scientific investigations to increase our understanding of aphasia, find better treatments, and discover improved methods to restore lost function to people who have aphasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colpocephaly ? ### Response: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colpocephaly ? ### Response: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colpocephaly ? ### Response: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Colpocephaly ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Benign Essential Blepharospasm ? ### Response: Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Benign Essential Blepharospasm ? ### Response: In most cases of BEB the treatment of choice is botulinum toxin injections which relax the muscles and stop the spasms. Other treatment options include medications (drug therapy) or surgery--either local surgery of the eye muscles or deep brain stimulation surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Benign Essential Blepharospasm ? ### Response: With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Benign Essential Blepharospasm ? ### Response: With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Traumatic Brain Injury ? ### Response: Traumatic brain injury (TBI), a form ofacquired brain injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue.Symptoms of a TBI can be mild, moderate, or severe, depending on the extent of the damage to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Traumatic Brain Injury ? ### Response: Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Traumatic Brain Injury ? ### Response: Approximately half of severely head-injured patients will need surgery to remove or repair hematomas (ruptured blood vessels) or contusions (bruised brain tissue). Disabilities resulting from a TBI depend upon the severity of the injury, the location of the injury, and the age and general health of the individual. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Traumatic Brain Injury ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) supports TBI research through grants to major medical institutions across the country and conducts TBI research in its intramural laboratories and Clinical Center at the National Institutes of Health (NIH) in Bethesda,Maryland. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polymyositis ? ### Response: Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Polymyositis ? ### Response: There is no cure for polymyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for polymyositis is a corticosteroid drug, given either in pill form or intravenously. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Polymyositis ? ### Response: The prognosis for polymyositis varies. Most people respond fairly well to therapy, but some have a more severe disease that does not respond adequately to therapies and are left with significant disability. In rare cases individuals with severe and progressive muscle weakness will develop respiratory failure or pneumonia. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Polymyositis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wallenberg's Syndrome ? ### Response: Wallenbergs syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wallenberg's Syndrome ? ### Response: Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Wallenberg's Syndrome ? ### Response: The outlook for someone with Wallenbergs syndrome depends upon the size and location of the area of the brain stem damaged by the stroke. Some individuals may see a decrease in their symptoms within weeks or months. Others may be left with significant neurological disabilities for years after the initial symptoms appeared. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Wallenberg's Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Wallenbergs syndrome in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monomelic Amyotrophy ? ### Response: Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monomelic Amyotrophy ? ### Response: Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Monomelic Amyotrophy ? ### Response: The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affects the small muscles of the hand and forearm and has a slowly progressive course. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Monomelic Amyotrophy ? ### Response: The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affects the small muscles of the hand and forearm and has a slowly progressive course. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gerstmann's Syndrome ? ### Response: There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gerstmann's Syndrome ? ### Response: There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gerstmann's Syndrome ? ### Response: The NINDS supports research on disorders that result from damage to the brain such as dysgraphia. The NINDS and other components of the National Institutes of Health also support research on learning disabilities. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of the biological basis of them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Whiplash ? ### Response: Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whiplash ? ### Response: Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whiplash ? ### Response: Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whiplash ? ### Response: Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tardive Dyskinesia ? ### Response: Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as for some gastrointestinal and neurological disorders. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tardive Dyskinesia ? ### Response: Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tardive Dyskinesia ? ### Response: Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tardive Dyskinesia ? ### Response: Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Isaacs' Syndrome ? ### Response: Issacs' syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Isaacs' Syndrome ? ### Response: Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs' syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Isaacs' Syndrome ? ### Response: Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs' syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Isaacs' Syndrome ? ### Response: The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, treat, and, ultimately, cure these disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Learning Disabilities ? ### Response: Learning disabilities are disorders that affect the ability to understand or use spoken or written language, do mathematical calculations, coordinate movements, or direct attention. Although learning disabilities occur in very young children, the disorders are usually not recognized until the child reaches school age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Learning Disabilities ? ### Response: The most common treatment for learning disabilities is special education. Specially trained educators may perform a diagnostic educational evaluation assessing the child's academic and intellectual potential and level of academic performance. Once the evaluation is complete, the basic approach is to teach learning skills by building on the child's abilities and strengths while correcting and compensating for disabilities and weaknesses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Learning Disabilities ? ### Response: The most common treatment for learning disabilities is special education. Specially trained educators may perform a diagnostic educational evaluation assessing the child's academic and intellectual potential and level of academic performance. Once the evaluation is complete, the basic approach is to teach learning skills by building on the child's abilities and strengths while correcting and compensating for disabilities and weaknesses. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Learning Disabilities ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) support research learning disabilities through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of their biological basis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spasticity ? ### Response: Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spasticity ? ### Response: Treatment may include such medications as baclofen, diazepam, tizanidine or clonazepam. Physical therapy regimens may include muscle stretching and range of motion exercises to help prevent shrinkage or shortening of muscles and to reduce the severity of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spasticity ? ### Response: Treatment may include such medications as baclofen, diazepam, tizanidine or clonazepam. Physical therapy regimens may include muscle stretching and range of motion exercises to help prevent shrinkage or shortening of muscles and to reduce the severity of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spasticity ? ### Response: Treatment may include such medications as baclofen, diazepam, tizanidine or clonazepam. Physical therapy regimens may include muscle stretching and range of motion exercises to help prevent shrinkage or shortening of muscles and to reduce the severity of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prosopagnosia ? ### Response: Prosopagnosia is a neurological disorder characterized by the inability to recognize faces. Prosopagnosia is also known as face blindness or facial agnosia. The term prosopagnosia comes from the Greek words for face and lack of knowledge. Depending upon the degree of impairment, some people with prosopagnosia may only have difficulty recognizing a familiar face; others will be unable to discriminate between unknown faces, while still others may not even be able to distinguish a face as being different from an object. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Prosopagnosia ? ### Response: Prosopagnosia can be socially crippling. Individuals with the disorder often have difficulty recognizing family members and close friends. They often use other ways to identify people, such as relying on voice, clothing, or unique physical attributes, but these are not as effective as recognizing a face. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Prosopagnosia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to prosopagnosia in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lesch-Nyhan Syndrome ? ### Response: Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lesch-Nyhan Syndrome ? ### Response: Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lesch-Nyhan Syndrome ? ### Response: Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lesch-Nyhan Syndrome ? ### Response: Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Deep Brain Stimulation for Parkinson's Disease ? ### Response: Deep brain stimulation (DBS) is a surgical procedure used to treat several disabling neurological symptomsmost commonly the debilitating motor symptoms of Parkinsons disease (PD), such as tremor, rigidity, stiffness, slowed movement, and walking problems. The procedure is also used to treat essential tremor and dystonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Deep Brain Stimulation for Parkinson's Disease ? ### Response: Unlike previous surgeries for PD, DBS involves minimal permanent surgical changes to the brain. Instead, the procedure uses electrical stimulation to regulate electrical signals in neural circuits to and from identified areas in the brain to improve PD symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Deep Brain Stimulation for Parkinson's Disease ? ### Response: Although most individuals still need to take medication after undergoing DBS, many people with Parkinsons disease experience considerable reduction of their motor symptoms and are able to reduce their medications. The amount of reduction varies but can be considerably reduced in most individuals, and can lead to a significant improvement in side effects such as dyskinesias (involuntary movements caused by long-term use of levodopa). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Deep Brain Stimulation for Parkinson's Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National institutes of Health (NIH), supports research on DBS to determine its safety, reliability, and effectiveness as a treatment for PD. NINDS supported research on brain circuitry was critical to the development of DBS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lambert-Eaton Myasthenic Syndrome ? ### Response: Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is caused by a disruption of electrical impulses between these nerve and muscle cells. LEMS is an autoimmune condition; in such disorders the immune system, which normally protects the body from foreign organisms, mistakenly attacks the body's own tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lambert-Eaton Myasthenic Syndrome ? ### Response: There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lambert-Eaton Myasthenic Syndrome ? ### Response: There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lambert-Eaton Myasthenic Syndrome ? ### Response: There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Swallowing Disorders ? ### Response: Having trouble swallowing (dysphagia) is a symptom that accompanies a number of neurological disorders. The problem can occur at any stage of the normal swallowing process as food and liquid move from the mouth, down the back of the throat, through the esophagus and into the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Swallowing Disorders ? ### Response: Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce the risk for aspiration. Occasionally drug therapy that helps the neurological disorder can also help dysphagia. In a few persons, botulinum toxin injections can help when food or liquid cannot enter the esophagus to get to the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Swallowing Disorders ? ### Response: The prognosis depends upon the type of swallowing problem and the course of the neurological disorder that produces it. In some cases, dysphagia can be partially or completely corrected using diet manipulation or non-invasive methods. In others, especially when the dysphagia is causing aspiration and preventing adequate nutrition and causing weight loss, it may require aggressive intervention such as a feeding tube. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Swallowing Disorders ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to dysphagia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Post-Polio Syndrome ? ### Response: Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakness, fatigue (both general and muscular), and a decrease in muscle size (muscular atrophy). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Post-Polio Syndrome ? ### Response: Presently, no prevention has been found that can stop deterioration or reverse the deficits caused by the syndrome A number of controlled studies have demonstrated that nonfatiguing exercises may improve muscle strength and reduce tiredness. Doctors recommend that polio survivors follow standard healthy lifestyle practices: consuming a well-balanced diet, exercising judiciously (preferably under the supervision of an experienced health professional), and visiting a doctor regularly. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Post-Polio Syndrome ? ### Response: PPS is a very slowly progressing condition marked by long periods of stability. The severity of PPS depends on the degree of the residual weakness and disability an individual has after the original polio attack. People who had only minimal symptoms from the original attack and subsequently develop PPS will most likely experience only mild PPS symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Post-Polio Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PPS in laboratories at the NIH, and also support additional PPS research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Absence of the Septum Pellucidum ? ### Response: The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Absence of the Septum Pellucidum ? ### Response: The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Absence of the Septum Pellucidum ? ### Response: The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Absence of the Septum Pellucidum ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system ad to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Neuropathy ? ### Response: Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body. More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pattern of development, and prognosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peripheral Neuropathy ? ### Response: No medical treatments exist that can cure inherited peripheral neuropathy. However, there are therapies for many other forms. In general, adopting healthy habits -- such as maintaining optimal weight, avoiding exposure to toxins, following a physician-supervised exercise program, eating a balanced diet, correcting vitamin deficiencies, and limiting or avoiding alcohol consumption -- can reduce the physical and emotional effects of peripheral neuropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Peripheral Neuropathy ? ### Response: In acute neuropathies, such as Guillain-Barr syndrome, symptoms appear suddenly, progress rapidly, and resolve slowly as damaged nerves heal. In chronic forms, symptoms begin subtly and progress slowly. Some people may have periods of relief followed by relapse. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Peripheral Neuropathy ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to peripheral neuropathies in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microcephaly ? ### Response: Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Microcephaly ? ### Response: There is no treatment for microcephaly that can return a childs head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Microcephaly ? ### Response: Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they may track below the normal growth curves for head circumference. Some children may have only mild disability, while those with more severe cases may face significant learning disabilities, cognitive delays, or develop other neurological disorders. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Microcephaly ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), one of several institutes of the National Institutes of Health (NIH), conducts and funds research aimed at understanding normal brain development, as well as disease-related disorders of the brain and nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erb-Duchenne and Dejerine-Klumpke Palsies ? ### Response: The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Erb-Duchenne (Erb's) palsy refers to paralysis of the upper brachial plexus. Dejerine-Klumpke (Klumpke's) palsy refers to paralysis of the lower brachial plexus. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Erb-Duchenne and Dejerine-Klumpke Palsies ? ### Response: The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Erb-Duchenne and Dejerine-Klumpke Palsies ? ### Response: The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dementia With Lewy Bodies ? ### Response: Dementia with Lewy bodies (DLB) is one of the most common types of progressive dementia. The central features of DLB include progressive cognitive decline, fluctuations in alertness and attention, visual hallucinations, and parkinsonian motor symptoms, such as slowness of movement, difficulty walking, or rigidity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dementia With Lewy Bodies ? ### Response: There is no cure for DLB. Treatments are aimed at controlling the cognitive, psychiatric, and motor symptoms of the disorder. Acetylcholinesterase inhibitors, such as donepezil and rivastigmine, are primarily used to treat the cognitive symptoms of DLB, but they may also be of some benefit in reducing the psychiatric and motor symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dementia With Lewy Bodies ? ### Response: Like Alzheimers disease and Parkinsons disease, DLB is a neurodegenerative disorder that results in progressive intellectual and functional deterioration. There are no known therapies to stop or slow the progression of DLB. Average survival after the time of diagnosis is similar to that in Alzheimers disease, about 8 years, with progressively increasing disability. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dementia With Lewy Bodies ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalitis Lethargica ? ### Response: Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalitis Lethargica ? ### Response: Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalitis Lethargica ? ### Response: Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalitis Lethargica ? ### Response: Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cephalic Disorders ? ### Response: Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cephalic Disorders ? ### Response: Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cephalic Disorders ? ### Response: The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cephalic Disorders ? ### Response: Scientists are rapidly learning how harmful insults, a critical nutritional deficiency, or exposure to an environmental insult at various stages of pregnancy can lead to developmental disorders. Research projects currently underway include a study to evaluate increased risk of neural tube defects and various other congenital malformations in association with environmental and occupational exposure to pesticides. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multi-Infarct Dementia ? ### Response: Multi-infarct dementia (MID) is a common cause of memory loss in the elderly. MID is caused by multiple strokes (disruption of blood flow to the brain). Disruption of blood flow leads to damaged brain tissue. Some of these strokes may occur without noticeable clinical symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multi-Infarct Dementia ? ### Response: There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Multi-Infarct Dementia ? ### Response: The prognosis for individuals with MID is generally poor. The symptoms of the disorder may begin suddenly, often in a step-wise pattern after each small stroke. Some people with MID may even appear to improve for short periods of time, then decline after having more silent strokes. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Multi-Infarct Dementia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to MID in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Febrile Seizures ? ### Response: Febrile seizures are convulsions or seizures in infants or small children that are brought on by a fever. Most often during a febrile seizure, a child loses consciousness and shakes uncontrollably. Less commonly, a child becomes rigid or has twitches in only a portion of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Febrile Seizures ? ### Response: A child who has a febrile seizure usually doesn't need to be hospitalized. If the seizure is prolonged or is accompanied by a serious infection, or if the source of the infection cannot be determined, a doctor may recommend that the child be hospitalized for observation. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Febrile Seizures ? ### Response: The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage. Multiple or prolonged seizures are a risk factor for epilepsy but most children who experience febrile seizures do not go on to develop the reoccurring seizures that re characteristic of epilepsy. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Febrile Seizures ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-supported scientists are exploring environmental, biological, and genetic risk factors that might make children susceptible to febrile seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Normal Pressure Hydrocephalus ? ### Response: Normal pressure hydrocephalus (NPH) is an abnormal buildup of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is blocked in some way. This causes the ventricles to enlarge, putting pressure on the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Normal Pressure Hydrocephalus ? ### Response: Treatment for NPH involves surgical placement of a shunt in the brain to drain excess CSF into the abdomen where it can be absorbed as part of the normal circulatory process. This allows the brain ventricles to return to their normal size. Regular follow-up care by a physician is important in order to identify subtle changes that might indicate problems with the shunt. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Normal Pressure Hydrocephalus ? ### Response: The symptoms of NPH usually get worse over time if the condition is not treated, although some people may experience temporary improvements. While the success of treatment with shunts varies from person to person, some people recover almost completely after treatment and have a good quality of life. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Normal Pressure Hydrocephalus ? ### Response: The NINDS conducts and supports research on neurological disorders, including normal pressure hydrocephalus. Research on disorders such as normal pressure hydrocephalus focuses on increasing knowledge and understanding of the disorder, improving diagnostic techniques and neuroimaging, and finding improved treatments and preventions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller Fisher Syndrome ? ### Response: Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barr syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barr syndrome, symptoms may be preceded by a viral illness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller Fisher Syndrome ? ### Response: Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barr syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barr syndrome, symptoms may be preceded by a viral illness. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Miller Fisher Syndrome ? ### Response: The prognosis for most individuals with Miller Fisher syndrome is good. In most cases, recovery begins within 2 to 4 weeks of the onset of symptoms, and may be almost complete within 6 months. Some individuals are left with residual deficits. Relapses may occur rarely (in less than 3 percent of cases). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Miller Fisher Syndrome ? ### Response: The prognosis for most individuals with Miller Fisher syndrome is good. In most cases, recovery begins within 2 to 4 weeks of the onset of symptoms, and may be almost complete within 6 months. Some individuals are left with residual deficits. Relapses may occur rarely (in less than 3 percent of cases). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Pain ? ### Response: While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of yourself, chronic pain is different. Chronic pain persists. Pain signals keep firing in the nervous system for weeks, months, even years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Pain ? ### Response: Medications, acupuncture, local electrical stimulation, and brain stimulation, as well as surgery, are some treatments for chronic pain. Some physicians use placebos, which in some cases has resulted in a lessening or elimination of pain. Psychotherapy, relaxation and medication therapies, biofeedback, and behavior modification may also be employed to treat chronic pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chronic Pain ? ### Response: Many people with chronic pain can be helped if they understand all the causes of pain and the many and varied steps that can be taken to undo what chronic pain has done. Scientists believe that advances in neuroscience will lead to more and better treatments for chronic pain in the years to come. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Chronic Pain ? ### Response: Clinical investigators have tested chronic pain patients and found that they often have lower-than-normal levels of endorphins in their spinal fluid. Investigations of acupuncture include wiring the needles to stimulate nerve endings electrically (electroacupuncture), which some researchers believe activates endorphin systems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adrenoleukodystrophy ? ### Response: X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adrenoleukodystrophy ? ### Response: Prognosis for patients with childhood cerebral X-ALD is generally poor due to progressive neurological deterioration unless bone marrow transplantation is performed early. Death usually occurs within 1 to 10 years after the onset of symptoms. Adult-onset AMN will progress over decades. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adrenoleukodystrophy ? ### Response: The NINDS supports research on genetic disorders such as ALD. The aim of this research is to find ways to prevent, treat, and cure these disorders. Studies are currently underway to identify new biomarkers of disease progression and to determine which patients will develop the childhood cerebral form of X-ALD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydromyelia ? ### Response: Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate. As spinal fluid builds up, it may put abnormal pressure on the spinal cord and damage nerve cells and their connections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydromyelia ? ### Response: Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate. As spinal fluid builds up, it may put abnormal pressure on the spinal cord and damage nerve cells and their connections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydromyelia ? ### Response: Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate. As spinal fluid builds up, it may put abnormal pressure on the spinal cord and damage nerve cells and their connections. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hydromyelia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports additional research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Joubert Syndrome ? ### Response: Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Joubert Syndrome ? ### Response: The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent, as well as on the extent and severity of other organ involvement, such as the kidneys and liver. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability, moderate impaired mental development, and multi-organ impairments. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Joubert Syndrome ? ### Response: The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infantile Spasms ? ### Response: An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Infantile Spasms ? ### Response: Treatment with corticosteroids such as prednisone is standard, although serious side effects can occur. Several newer antiepileptic medications, such as topiramate may ease some symptoms. Vigabatrin (Sabril) has been approved by the U.S. Food and Drug Administration to treat infantile spasms in children ages one month to two years. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Infantile Spasms ? ### Response: The prognosis for children with IS is dependent on the underlying causes of the seizures. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. Epileptic spasms usually reduce in number by mid-childhood, but more than half of the children with IS will develop other types of seizures. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Infantile Spasms ? ### Response: The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will be developed to treat IS and West Syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arachnoid Cysts ? ### Response: Arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Primary arachnoid cysts are present at birth and are the result of developmental abnormalities in the brain and spinal cord that arise during the early weeks of gestation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arachnoid Cysts ? ### Response: There has been active debate about how to treat arachnoid cysts. The need for treatment depends mostly upon the location and size of the cyst. If the cyst is small, not disturbing surrounding tissue, and not causing symptoms, some doctors will refrain from treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arachnoid Cysts ? ### Response: There has been active debate about how to treat arachnoid cysts. The need for treatment depends mostly upon the location and size of the cyst. If the cyst is small, not disturbing surrounding tissue, and not causing symptoms, some doctors will refrain from treatment. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Arachnoid Cysts ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to brain abnormalities and disorders of the nervous system such as arachnoid cysts in laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Behcet's Disease ? ### Response: Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Behcet's Disease ? ### Response: Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Behcet's Disease ? ### Response: Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Behcet's Disease ? ### Response: The NINDS supports research on painful neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National Institutes of Health, conducts research into the genomic basis of Behcet's disease. This research is aimed at discovering the causes of these disorders and finding ways to treat, prevent, and, ultimately, cure them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelizaeus-Merzbacher Disease ? ### Response: Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelizaeus-Merzbacher Disease ? ### Response: Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pelizaeus-Merzbacher Disease ? ### Response: The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pelizaeus-Merzbacher Disease ? ### Response: The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barth Syndrome ? ### Response: Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Barth Syndrome ? ### Response: There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Barth Syndrome ? ### Response: Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. The disorder was once considered uniformly fatal in infancy, but some individuals are now living much longer. Severe infections and cardiac failure are common causes of death in affected children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Barth Syndrome ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pervasive Developmental Disorders ? ### Response: The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pervasive Developmental Disorders ? ### Response: There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pervasive Developmental Disorders ? ### Response: There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pervasive Developmental Disorders ? ### Response: The NINDS conducts and supports research on developmental disabilities, including PDD. Much of this research focuses on understanding the neurological basis of PDD and on developing techniques to diagnose, treat, prevent, and ultimately cure this and similar disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Krabbe Disease ? ### Response: Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, ischaracterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerves protective myelin coating. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Krabbe Disease ? ### Response: There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Krabbe Disease ? ### Response: There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Krabbe Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the largest supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ? ### Response: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath (the fatty covering that wraps around and protects nerve fibers) of the peripheral nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ? ### Response: Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ? ### Response: The course of CIDP varies widely among individuals. Some may have a bout of CIDP followed by spontaneous recovery, while others may have many bouts with partial recovery in between relapses. The disease is a treatable cause of acquired neuropathy and initiation of early treatment to prevent loss of nerve axons is recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ? ### Response: The course of CIDP varies widely among individuals. Some may have a bout of CIDP followed by spontaneous recovery, while others may have many bouts with partial recovery in between relapses. The disease is a treatable cause of acquired neuropathy and initiation of early treatment to prevent loss of nerve axons is recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asperger Syndrome ? ### Response: Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Asperger Syndrome ? ### Response: The ideal treatment for AS coordinates therapies that address the three core symptoms of the disorder: poor communication skills, obsessive or repetitive routines, and physical clumsiness. There is no single best treatment package for all children with AS, but most professionals agree that the earlier the intervention, the better. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Asperger Syndrome ? ### Response: With effective treatment, children with AS can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Many adults with AS are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Asperger Syndrome ? ### Response: Many of the Institutes at the NIH, including the NINDS, are sponsoring research to understand what causes AS and how it can be effectively treated. One study is using functional magnetic resonance imaging (fMRI) to show how abnormalities in particular areas of the brain cause changes in brain function that result in the symptoms of AS and other ASDs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Corticobasal Degeneration ? ### Response: Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Corticobasal Degeneration ? ### Response: There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Corticobasal Degeneration ? ### Response: There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Corticobasal Degeneration ? ### Response: There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucopolysaccharidoses ? ### Response: The mucopolysaccharidoses are a group of inherited metabolic diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mucopolysaccharidoses ? ### Response: Currently there is no cure for these disease syndromes.Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Mucopolysaccharidoses ? ### Response: The mucopolysaccharidoses syndromes share many clinical features but have varying degrees of severity. Most individuals with a mucopolysaccharidosis syndrome generally experience a period of normal development followed by a decline in physical and mental function. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Trenaunay Syndrome (KTS) ? ### Response: Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Trenaunay Syndrome (KTS) ? ### Response: Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Trenaunay Syndrome (KTS) ? ### Response: Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Trenaunay Syndrome (KTS) ? ### Response: Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periventricular Leukomalacia ? ### Response: Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periventricular Leukomalacia ? ### Response: Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periventricular Leukomalacia ? ### Response: Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periventricular Leukomalacia ? ### Response: Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brown-Sequard Syndrome ? ### Response: Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brown-Sequard Syndrome ? ### Response: Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brown-Sequard Syndrome ? ### Response: Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurological Sequelae Of Lupus ? ### Response: Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neurological Sequelae Of Lupus ? ### Response: There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal anti-inflammatory medications, antimalarials, corticosteroids, and immunosuppressive drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurological Sequelae Of Lupus ? ### Response: The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurological Sequelae Of Lupus ? ### Response: The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Generalized Gangliosidoses ? ### Response: The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Generalized Gangliosidoses ? ### Response: The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Generalized Gangliosidoses ? ### Response: Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Generalized Gangliosidoses ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal Hemicrania ? ### Response: Paroxysmal hemicrania is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side of the face; in, around, or behind the eye; and occasionally reaching to the back of the neck. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paroxysmal Hemicrania ? ### Response: The nonsteroidal anti-inflammatory drug (NSAID) indomethacin often provides complete relief from symptoms. Other less effective NSAIDs, calcium-channel blocking drugs (such as verapamil), and corticosteroids may be used to treat the disorder. Patients with both paroxysmal hemicrania and trigeminal neuralgia (a condition of the 5th cranial nerve that causes sudden, severe pain typically felt on one side of the jaw or cheek) should receive treatment for each disorder. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Paroxysmal Hemicrania ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to paroxysmal hemicrania through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure headache disorders such as paroxysmal hemicrania. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myopathy ? ### Response: The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myopathy ? ### Response: Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myopathy ? ### Response: Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myopathy ? ### Response: Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Troyer Syndrome ? ### Response: Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Troyer Syndrome ? ### Response: There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Troyer Syndrome ? ### Response: There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Troyer Syndrome ? ### Response: The NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stroke ? ### Response: Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Stroke ? ### Response: Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Stroke ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parkinson's Disease ? ### Response: At present, there is no cure for PD, but a variety of medications provide dramatic relief from the symptoms. Usually, affected individuals are given levodopa combined with carbidopa. Carbidopa delays the conversion of levodopa into dopamine until it reaches the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Parkinson's Disease ? ### Response: PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. Although some people become severely disabled, others experience only minor motor disruptions. Tremor is the major symptom for some individuals, while for others tremor is only a minor complaint and other symptoms are more troublesome. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Parkinson's Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Melkersson-Rosenthal Syndrome ? ### Response: Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Melkersson-Rosenthal Syndrome ? ### Response: Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Melkersson-Rosenthal Syndrome ? ### Response: Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Melkersson-Rosenthal Syndrome ? ### Response: Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sjgren's Syndrome ? ### Response: Sjgren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sjgren's Syndrome ? ### Response: There is no known cure for Sjgren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sjgren's Syndrome ? ### Response: Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sjgren's Syndrome ? ### Response: Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydranencephaly ? ### Response: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydranencephaly ? ### Response: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydranencephaly ? ### Response: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hydranencephaly ? ### Response: The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including hydranencephaly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive Multifocal Leukoencephalopathy ? ### Response: Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive Multifocal Leukoencephalopathy ? ### Response: Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive Multifocal Leukoencephalopathy ? ### Response: Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Progressive Multifocal Leukoencephalopathy ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PML in laboratories at the NIH, and support additional research through grants to majorresearch institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Williams Syndrome ? ### Response: Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Williams Syndrome ? ### Response: There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individuals particular symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Williams Syndrome ? ### Response: The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Williams Syndrome ? ### Response: The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypotonia ? ### Response: Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypotonia ? ### Response: Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypotonia ? ### Response: Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypotonia ? ### Response: Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing's Syndrome ? ### Response: Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cushing's Syndrome ? ### Response: Treatment of Cushing's syndrome depends on the cause of excess cortisol. If the cause is long-term use of a medication being used to treat another disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cushing's Syndrome ? ### Response: The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cushing's Syndrome ? ### Response: The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moyamoya Disease ? ### Response: Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name moyamoya means puff of smoke in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Moyamoya Disease ? ### Response: There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Moyamoya Disease ? ### Response: Without surgery, the majority of individuals with Moyamoya disease will experience mental decline and multiple strokes because of the progressive narrowing of arteries.Without treatment,Moyamoya diseasecan be fatal as the result ofintracerebral hemorrhage (bleeding within the brain). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Moyamoya Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports neurological research aimed at understanding why diseases develop in the brain, and that focus on finding ways to prevent, treat, or cure them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pituitary Tumors ? ### Response: The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves. It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pituitary Tumors ? ### Response: Generally, treatment depends on the type of tumor, the size of the tumor, whether the tumor has invaded or pressed on surrounding structures, such as the brain and visual pathways, and the individuals age and overall health. Three types of treatment are used: surgical removal of the tumor; radiation therapy, in which high-dose x-rays are used to kill the tumor cells; and drug therapy to shrink or destroy the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pituitary Tumors ? ### Response: If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pituitary Tumors ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Foot Drop ? ### Response: Foot drop describes the inability to raise the front part of the foot due to weakness or paralysis of the muscles that lift the foot. As a result, individuals with foot drop scuff their toes along the ground or bend their knees to lift their foot higher than usual to avoid the scuffing, which causes what is called a steppage gait. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Foot Drop ? ### Response: Treatment depends on the specific cause of foot drop. The most common treatment is to support the foot with light-weight leg braces and shoe inserts, called ankle-foot orthotics. Exercise therapy to strengthen the muscles and maintain joint motion also helps to improve gait. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Foot Drop ? ### Response: The prognosis for foot drop depends on the cause. Foot drop caused by trauma or nerve damage usually shows partial or even complete recovery. For progressive neurological disorders, foot drop will be a symptom that is likely to continue as a lifelong disability, but it will not shorten life expectancy. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Foot Drop ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to the neurological conditions that cause foot drop in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Central Cord Syndrome ? ### Response: Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Central Cord Syndrome ? ### Response: There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Central Cord Syndrome ? ### Response: The prognosis for central cord syndrome varies, but most people whose syndrome is caused by trauma have some recovery of neurological function. Evaluation of abnormal signals on MRI images can help predict he likelihood that neurological recovery may occur naturally. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Central Cord Syndrome ? ### Response: Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological Disorders and Stroke (NINDS). Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anencephaly ? ### Response: Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the ""cephalic"" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anencephaly ? ### Response: Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the ""cephalic"" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anencephaly ? ### Response: Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the ""cephalic"" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Anencephaly ? ### Response: Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurological Consequences of Cytomegalovirus Infection ? ### Response: Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the age of 40. CMV is in the same family of viruses that causes cold sores (herpes simplex virus), infectious mononucleosis (Epstein-Barr virus), and chickenpox/shingles (varicella zoster virus). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurological Consequences of Cytomegalovirus Infection ? ### Response: For most people CMV infection is not a problem. However, two groups of people are at high risk of neurological or other severe symptoms that may lead to long-term effects: - Unborn infants whose mothers have CMV infection. CMVis the most common congenital infection in the U. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neurological Consequences of Cytomegalovirus Infection ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to CMV infection in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscular Dystrophy ? ### Response: The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Muscular Dystrophy ? ### Response: There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Muscular Dystrophy ? ### Response: The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Muscular Dystrophy ? ### Response: The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder. The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tourette Syndrome ? ### Response: Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tourette Syndrome ? ### Response: Because tic symptoms do not often cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. There is no one medication that is helpful to all people with TS, nor does any medication completely eliminate symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Tourette Syndrome ? ### Response: Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Tourette Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypertonia ? ### Response: Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypertonia ? ### Response: Muscle relaxing drugs such as baclofen, diazepam, and dantrolene may be prescribed to reduce spasticity. All of these drugs can be taken by mouth, but baclofen may also be injected directly into the cerebrospinal fluid through an implanted pump. Botulinum toxin is often used to relieve hypertonia in a specific area of the body because its effects are local, not body-wide. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hypertonia ? ### Response: The prognosis depends upon the severity of the hypertonia and its cause. In some cases, such as cerebral palsy, the hypertonia may not change over the course of a lifetime. in other cases, the hypertonia may worsen along with the underlying disease If the hypertonia is mild, it has little or no effect on a person's health. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hypertonia ? ### Response: The prognosis depends upon the severity of the hypertonia and its cause. In some cases, such as cerebral palsy, the hypertonia may not change over the course of a lifetime. in other cases, the hypertonia may worsen along with the underlying disease If the hypertonia is mild, it has little or no effect on a person's health. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Friedreich's Ataxia ? ### Response: Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Friedreich's Ataxia ? ### Response: There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Friedreich's Ataxia ? ### Response: Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Friedreich's Ataxia ? ### Response: Friedreich's ataxia is caused by a mutation in the protein frataxin, which is involved in the function of mitochondriathe energy producing power plants of the cell. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson Disease ? ### Response: Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wilson Disease ? ### Response: WD requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Wilson Disease ? ### Response: Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Wilson Disease ? ### Response: The National Institute of Neurological Disorders and Stroke, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and other institutes of the National Institutes of Health (NIH) conduct and/or support research related to Wilson disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral Aneurysms ? ### Response: A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebral Aneurysms ? ### Response: For unruptured aneurysms, treatment may be recommended for large or irregularly-shaped aneurysms or for those causing symptoms. Emergency treatment for individuals with a ruptured cerebral aneurysm may be required to restore deteriorating respiration and reduce abnormally high pressure within the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cerebral Aneurysms ? ### Response: The prognosis for a individual with a ruptured cerebral aneurysm depends on the location of the aneurysm, extent of bleeding or rebleeding, the person's age, general health, pre-existing neurological conditions, adn time between rupture and medical attention. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cerebral Aneurysms ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions. The NINDS supports a broad range of basic and clinical research on intracranial aneurysms and other vascular lesions of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth Disease ? ### Response: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in theUnited States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Charcot-Marie-Tooth Disease ? ### Response: There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for patients who have severe pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Charcot-Marie-Tooth Disease ? ### Response: Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Charcot-Marie-Tooth Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts CMT research in its laboratories at the National Institutes of Health (NIH) and also supports CMT research through grants to major medical institutions across the country. Ongoing research includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alternating Hemiplegia ? ### Response: Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alternating Hemiplegia ? ### Response: Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Alternating Hemiplegia ? ### Response: Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Alternating Hemiplegia ? ### Response: Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meralgia Paresthetica ? ### Response: Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensitive to touch and sometimes painful. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meralgia Paresthetica ? ### Response: Treatment for meralgia paresthetica is symptomatic and supportive. The majority of cases improve with conservative treatment by wearing looser clothing and losing weight. Medications used to treat neurogenic pain, such as anti-seizure or anti-depressant medications, may alleviate symptoms of pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meralgia Paresthetica ? ### Response: Treatment for meralgia paresthetica is symptomatic and supportive. The majority of cases improve with conservative treatment by wearing looser clothing and losing weight. Medications used to treat neurogenic pain, such as anti-seizure or anti-depressant medications, may alleviate symptoms of pain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Meralgia Paresthetica ? ### Response: Within the NINDS research programs, meralgia paresthetica is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing these debilitating conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurosyphilis ? ### Response: Neurosyphilis is a disease of the coverings of the brain, the brain itself, or the spinal cord. It can occur in people with syphilis, especially if they are left untreated. Neurosyphilis is different from syphilis because it affects the nervous system, while syphilis is a sexually transmitted disease with different signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neurosyphilis ? ### Response: Penicillin, an antibiotic, is used to treat syphilis. Individuals with neurosyphilis can be treated with penicillin given by vein, or by daily intramuscular injections for 10 14 days. If they are treated with daily penicillin injections, individuals must also take probenecid by mouth four times a day. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurosyphilis ? ### Response: Prognosis can change based on the type of neurosyphilis and how early in the course of the disease people with neurosyphilis get diagnosed and treated. Individuals with asymptomatic neurosyphilis or meningeal neurosyphilis usually return to normal health. People with meningovascular syphilis, general paresis, or tabes dorsalis usually do not return to normal health, although they may get much better. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurosyphilis ? ### Response: Prognosis can change based on the type of neurosyphilis and how early in the course of the disease people with neurosyphilis get diagnosed and treated. Individuals with asymptomatic neurosyphilis or meningeal neurosyphilis usually return to normal health. People with meningovascular syphilis, general paresis, or tabes dorsalis usually do not return to normal health, although they may get much better. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuromyelitis Optica ? ### Response: Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system (CNS) that predominantly affects the optic nerves and spinal cord. It is sometimes also referred to as NMO spectrum disorder.In NMO, the body's immune system mistakenly attacks healthy cells and proteins in the body, must often those in the spinal cord and eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neuromyelitis Optica ? ### Response: There is no cure for NMO and no FDA-approved therapies, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.NMO relapses and attacks are often treated with corticosteroid drugs and plasma exchange (also called plasmapheresis, a process used to remove harmful antibodies from the bloodstream). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neuromyelitis Optica ? ### Response: Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neuromyelitis Optica ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tay-Sachs Disease ? ### Response: Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tay-Sachs Disease ? ### Response: Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tay-Sachs Disease ? ### Response: Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Tay-Sachs Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyssynergia Cerebellaris Myoclonica ? ### Response: Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyssynergia Cerebellaris Myoclonica ? ### Response: Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyssynergia Cerebellaris Myoclonica ? ### Response: Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyssynergia Cerebellaris Myoclonica ? ### Response: Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Encephalopathy ? ### Response: Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Encephalopathy ? ### Response: Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Encephalopathy ? ### Response: Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sturge-Weber Syndrome ? ### Response: Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sturge-Weber Syndrome ? ### Response: Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sturge-Weber Syndrome ? ### Response: Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sturge-Weber Syndrome ? ### Response: Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kennedy's Disease ? ### Response: Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kennedy's Disease ? ### Response: Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kennedy's Disease ? ### Response: Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kennedy's Disease ? ### Response: Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurofibromatosis ? ### Response: The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neurofibromatosis ? ### Response: Treatment may include surgery, focused radiation, or chemotherapy. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurofibromatosis ? ### Response: In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. Loss of hearing in both ears develops in most individuals with NF2. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neurofibromatosis ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope of eventually developing drugs and techniques to help diagnose and treat NF. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres Syndrome Disorder ? ### Response: Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aicardi-Goutieres Syndrome Disorder ? ### Response: Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Aicardi-Goutieres Syndrome Disorder ? ### Response: The prognosis depends upon the severity of symptoms. Children with early-onset AGS have the highest risk of death. Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to AGS through grants to major medical institutions across the country. Current research is aimed at finding new methods for treating and ultimately preventing or curing AGS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudotumor Cerebri ? ### Response: Pseudotumor cerebri literally means ""false brain tumor."" It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting, and pulsating sounds within the head, closely mimic symptoms of large brain tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pseudotumor Cerebri ? ### Response: Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pseudotumor Cerebri ? ### Response: Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pseudotumor Cerebri ? ### Response: The NINDS conducts and supports research on disorders of the brain and nervous system, including pseudotumor cerebri. This research focuses primarily on increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schilder's Disease ? ### Response: Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schilder's Disease ? ### Response: Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Schilder's Disease ? ### Response: As with multiple sclerosis, the course and prognosis of Schilder's disease are unpredictable. For some individuals the disorder is progressive with a steady, unremitting course. Others may experience significant improvement and even remission. In some cases, Schilder's disease is fatal. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Schilder's Disease ? ### Response: As with multiple sclerosis, the course and prognosis of Schilder's disease are unpredictable. For some individuals the disorder is progressive with a steady, unremitting course. Others may experience significant improvement and even remission. In some cases, Schilder's disease is fatal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tarlov Cysts ? ### Response: Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tarlov Cysts ? ### Response: Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tarlov Cysts ? ### Response: Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple Sclerosis ? ### Response: An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple Sclerosis ? ### Response: There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Multiple Sclerosis ? ### Response: A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Multiple Sclerosis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moebius Syndrome ? ### Response: Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Moebius Syndrome ? ### Response: There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Moebius Syndrome ? ### Response: There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Moebius Syndrome ? ### Response: There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thyrotoxic Myopathy ? ### Response: Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thyrotoxic Myopathy ? ### Response: Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thyrotoxic Myopathy ? ### Response: Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thyrotoxic Myopathy ? ### Response: Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroacanthocytosis ? ### Response: Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neuroacanthocytosis ? ### Response: There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. Medications that block dopamine, such as some of the antipsychotics, may decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neuroacanthocytosis ? ### Response: There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. Medications that block dopamine, such as some of the antipsychotics, may decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neuroacanthocytosis ? ### Response: The NINDS supports research on disorders such as neuroacanthocytosis, aimed at increasing scientific understanding of the disorders and finding ways to prevent and treat them. The genetic mutations responsible for some types of neuroacanthocytosis have recently been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sotos Syndrome ? ### Response: Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sotos Syndrome ? ### Response: Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sotos Syndrome ? ### Response: Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Sotos Syndrome ? ### Response: The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? ### Response: Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? ### Response: Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? ### Response: Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? ### Response: Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Piriformis Syndrome ? ### Response: Piriformis syndrome is a rare neuromuscular disorder that occurs when the piriformis muscle compresses or irritates the sciatic nerve-the largest nerve in the body. The piriformis muscle is a narrow muscle located in the buttocks. Compression of the sciatic nerve causes pain-frequently described as tingling or numbness-in the buttocks and along the nerve, often down to the leg. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Piriformis Syndrome ? ### Response: Generally, treatment for the disorder begins with stretching exercises and massage. Anti-inflammatory drugs may be prescribed. Cessation of running, bicycling, or similar activities may be advised. A corticosteroid injection near where the piriformis muscle and the sciatic nerve meet may provide temporary relief. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Piriformis Syndrome ? ### Response: The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Piriformis Syndrome ? ### Response: Within the NINDS research programs, piriformis syndrome is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as piriformis syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Infarction ? ### Response: Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Infarction ? ### Response: Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Infarction ? ### Response: Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Infarction ? ### Response: Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Repetitive Motion Disorders ? ### Response: Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Repetitive Motion Disorders ? ### Response: Treatment for RMDs usually includes reducing or stopping the motions that cause symptoms. Options include taking breaks to give the affected area time to rest, and adopting stretching and relaxation exercises. Applying ice to the affected area and using medications such as pain relievers, cortisone, and anti-inflammatory drugs can reduce pain and swelling. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Repetitive Motion Disorders ? ### Response: Most individuals with RMDs recover completely and can avoid re-injury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected area. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Repetitive Motion Disorders ? ### Response: Most individuals with RMDs recover completely and can avoid re-injury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected area. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel Feil Syndrome ? ### Response: Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel Feil Syndrome ? ### Response: Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel Feil Syndrome ? ### Response: Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Klippel Feil Syndrome ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abuot the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by disease and trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpal Tunnel Syndrome ? ### Response: Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpal Tunnel Syndrome ? ### Response: Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Carpal Tunnel Syndrome ? ### Response: In general, carpal tunnel syndrome responds well to treatment, but less than half of individuals report their hand(s) feeling completely normal following surgery. Some residual numbness or weakness is common. At work, people can perform stretching exercises, take frequent rest breaks, wear splints to keep wrists straight, and use correct posture and wrist position to help prevent or worsen symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Carpal Tunnel Syndrome ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to conduct fundamental research on the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded scientists are studying the factors that lead to long-lasting nerve pain disorders, and how the affected nerves are related to symptoms of numbness, loss of function, and pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Opsoclonus Myoclonus ? ### Response: Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Opsoclonus Myoclonus ? ### Response: Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Opsoclonus Myoclonus ? ### Response: The prognosis for opsoclonus myoclonus varies depending on the symptoms and the presence and treatment of tumors. With treatment of the underlying cause of the disorder, there may be an improvement of symptoms. The symptoms sometimes recur without warning. Generally the disorder is not fatal. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Opsoclonus Myoclonus ? ### Response: The prognosis for opsoclonus myoclonus varies depending on the symptoms and the presence and treatment of tumors. With treatment of the underlying cause of the disorder, there may be an improvement of symptoms. The symptoms sometimes recur without warning. Generally the disorder is not fatal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dysautonomia ? ### Response: Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dysautonomia ? ### Response: There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given intravenously), a high-salt diet, and drugs such as fludrocortisone and midodrine. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dysautonomia ? ### Response: The outlook for individuals with dysautonomia depends on the particular diagnostic category. People with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dysautonomia ? ### Response: The outlook for individuals with dysautonomia depends on the particular diagnostic category. People with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metachromatic Leukodystrophy ? ### Response: Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies, which are characterized by the toxic buildup of lipids (fatty materials such as oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Metachromatic Leukodystrophy ? ### Response: There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Metachromatic Leukodystrophy ? ### Response: The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Metachromatic Leukodystrophy ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Atrial Fibrillation and Stroke ? ### Response: Atrial fibrillation (AF) describes the rapid, irregular beating of the left atrium (upper chamber) of the heart. These rapid contractions of the heart are weaker than normal contractions, resulting in slow flow of blood in the atrium. The blood pools and becomes sluggish and can result in the formation of blood clots. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Atrial Fibrillation and Stroke ? ### Response: Within a few hours after onset of a stroke, treatment with drugs or devices that dissolve or break up the clot can restore blood flow to the brain and lead to a better recovery. To prevent strokes related to AF, doctors often prescribe medications to prevent formation of clots in the heart, which can travel to the brain and cause stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Atrial Fibrillation and Stroke ? ### Response: AF, which affects as many as 2.2 million Americans, increases an individuals risk of stroke by 4 to 6 times on average. The risk increases with age. In people over 80 years old, AF is the direct cause of 1 in 4 strokes. Treating individuals with warfarin or new blood thinners reduces the rate of stroke for those who have AF by approximately one-half to two- thirds. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Atrial Fibrillation and Stroke ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) is the leading Federal agency directing and funding research relevant to AF and stroke prevention. The NINDS conducts basic and clinical research in its laboratories and clinics at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Migraine ? ### Response: The pain of a migraine headache is often described as an intense pulsing or throbbing pain in one area of the head. However, it is much more; the International Headache Society diagnoses a migraine by its pain and number of attacks (at least 5, lasting 4-72 hours if untreated), and additional symptoms including nausea and/or vomiting, or sensitivity to both light and sound. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Migraine ? ### Response: There is no absolute cure for migraine since its pathophysiology has yet to be fully understood. There are two ways to approach the treatment of migraine headache with drugs: prevent the attacks, or relieve the symptoms during the attacks. Prevention involves the use of medications and behavioral changes. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Migraine ? ### Response: Responsive prevention and treatment of migraine is incredibly important. Evidence shows an increased sensitivity after each successive attack, eventually leading to chronic daily migraine in some individuals With proper combination of drugs for prevention and treatment of migraine attacks most individuals can overcome much of the discomfort from this debilitating disorder. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Migraine ? ### Response: Researchers believe that migraine is the result of fundamental neurological abnormalities caused by genetic mutations at work in the brain. New models are aiding scientists in studying the basic science involved in the biological cascade, genetic components and mechanisms of migraine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi Syndrome ? ### Response: Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aicardi Syndrome ? ### Response: There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays. Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aicardi Syndrome ? ### Response: There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays. Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Aicardi Syndrome ? ### Response: The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent, and ultimately cure disorders such as Aicardi syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Refsum Disease ? ### Response: Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Refsum Disease ? ### Response: The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Refsum Disease ? ### Response: ARD is treatable because phytanic acid is not produced by the body, but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist and the sense of smell may not return. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Refsum Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure ARD and other peroxisomal disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frontotemporal Dementia ? ### Response: Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Picks disease, the name and classification of FTD has been a topic of discussion for over a century. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Frontotemporal Dementia ? ### Response: No treatment has been shown to slow the progression of FTD. Behavior modification may help control unacceptable or dangerous behaviors. Aggressive, agitated, or dangerous behaviors could require medication. Anti-depressants have been shown to improve some symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Frontotemporal Dementia ? ### Response: The outcome for people with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Frontotemporal Dementia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to FTD in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shaken Baby Syndrome ? ### Response: Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shaken Baby Syndrome ? ### Response: Emergency treatment for a baby who has been shaken usually includes life-sustaining measures such as respiratory support and surgery to stop internal bleeding and bleeding in the brain. Doctors may use brain scans, such as MRI and CT, to make a more definite diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Shaken Baby Syndrome ? ### Response: In comparison with accidental traumatic brain injury in infants, shaken baby injuries have a much worse prognosis. Damage to the retina of the eye can cause blindness. The majority of infants who survive severe shaking will have some form of neurological or mental disability, such as cerebral palsy or cognitive impairment, which may not be fully apparent before 6 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Shaken Baby Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to shaken baby syndrome in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gerstmann-Straussler-Scheinker Disease ? ### Response: Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Gerstmann-Straussler-Scheinker Disease ? ### Response: GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gerstmann-Straussler-Scheinker Disease ? ### Response: The NINDS supports and conducts research on TSEs, including GSS. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Syringomyelia ? ### Response: Surgery is usually recommended for individuals with syringomyelia, with the type of surgery and its location dependent on the type of syrinx. In persons with syringomyelia that is associated with the Chiara I malformation, a procedure that removes skulll bone and expands the space around the malformation usually prevents new symptoms from developing and results in the syrinx becoming smaller. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Syringomyelia ? ### Response: Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Syringomyelia ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS investigators are studying how syrinxes first form, as well as the mechanisms of the disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dandy-Walker Syndrome ? ### Response: Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain, which will reduce pressure inside the skull and improve symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dandy-Walker Syndrome ? ### Response: The effect of Dandy-Walker Syndrome on intellectual development is variable, with some children having normal cognition and others never achieving normal intellectual development even when the excess fluid buildup is treated early and correctly. Longevity depends on the severity of the syndrome and associated malformations. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dandy-Walker Syndrome ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spina Bifida ? ### Response: Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spina Bifida ? ### Response: There is no cure for SB because the nerve tissue cannot be replaced or repaired. Treatment for the variety of effects of SB may include surgery, medication, and physiotherapy. Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Spina Bifida ? ### Response: The prognosis for individuals with SB depends on the number and severity of abnormalities. Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects. With proper care, most children with SB live well into adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Spina Bifida ? ### Response: The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Back Pain ? ### Response: Acute or short-term low back pain generally lasts from a few days to a few weeks. Most acute back pain is the result of trauma to the lower back or a disorder such as arthritis. Pain from trauma may be caused by a sports injury, work around the house or in the garden, or a sudden jolt such as a car accident or other stress on spinal bones and tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Back Pain ? ### Response: Most low back pain can be treated without surgery. Treatment involves using over-the-counter pain relievers to reduce discomfort and anti-inflammatory drugs to reduce inflammation. The goal of treatment is to restore proper function and strength to the back, and prevent recurrence of the injury. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Back Pain ? ### Response: Most patients with back pain recover without residual functional loss, but individuals should contact a doctor if there is not a noticeable reduction in pain and inflammation after 72 hours of self-care. Recurring back pain resulting from improper body mechanics or other nontraumatic causes is often preventable. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Back Pain ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct pain research in laboratories at the NIH and also support pain research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroleptic Malignant Syndrome ? ### Response: Neuroleptic malignant syndrome is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating, unstable blood pressure, stupor, muscular rigidity, and autonomic dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroleptic Malignant Syndrome ? ### Response: Neuroleptic malignant syndrome is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating, unstable blood pressure, stupor, muscular rigidity, and autonomic dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neuroleptic Malignant Syndrome ? ### Response: Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neuroleptic Malignant Syndrome ? ### Response: Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Antiphospholipid Syndrome ? ### Response: Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs. In APS, specific antibodies activate the inner lining of blood vessels, which leads to the formation of blood clots in arteries or veins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Antiphospholipid Syndrome ? ### Response: The main goal of treatment is to thin the blood to reduce clotting. At present, the recommended treatment is low-dose aspirin. For individuals who have already had a stroke or experience recurrent clots, doctors recommend treatment with the anticoagulant warfarin. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Antiphospholipid Syndrome ? ### Response: APS improves significantly with anticoagulation therapy, which reduces the risk of further clots in veins and arteries. Treatment should be lifelong, since there is a high risk of further clots in individuals who stop warfarin treatment. Doctors often recommend that individuals stop smoking, exercise regularly, and eat a healthy diet to prevent high blood pressure and diabetes, which are diseases that increase the risk for stroke. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Antiphospholipid Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research on APS through grants to major medical institutions across the country.NINDS-funded research is looking at ways to reduce clotting and prevent stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kearns-Sayre Syndrome ? ### Response: Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kearns-Sayre Syndrome ? ### Response: There is currently no effective way to treat mitochondria abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Kearns-Sayre Syndrome ? ### Response: KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Kearns-Sayre Syndrome ? ### Response: The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Restless Legs Syndrome ? ### Response: Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations in the legs and an uncontrollable, and sometimes overwhelming, urge to move them for relief. Individuals affected with the disorder often describe the sensations as throbbing, polling, or creeping. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Restless Legs Syndrome ? ### Response: For those with mild to moderate symptoms, many physicians suggest certain lifestyle changes and activities to reduce or eliminate symptoms. Decreased use of caffeine, alcohol, and tobacco may provide some relief. Physicians may suggest that certain individuals take supplements to correct deficiencies in iron, folate, and magnesium. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Restless Legs Syndrome ? ### Response: RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear for days, weeks, or months, although symptoms usually eventually reappear. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Restless Legs Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct and support RLS research in laboratories at the NIH and at major medical institutions across the country. The goal of this research is to increase scientific understanding of RLS, find improved methods of diagnosing and treating the syndrome, and discover ways to prevent it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infantile Refsum Disease ? ### Response: Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Infantile Refsum Disease ? ### Response: The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Infantile Refsum Disease ? ### Response: The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Infantile Refsum Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRDin its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Reye's Syndrome ? ### Response: Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Reye's Syndrome ? ### Response: There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Reye's Syndrome ? ### Response: Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Reye's Syndrome ? ### Response: Much of the research on RS focuses on answering fundamental questions about the disorder such as how problems in the body's metabolism may trigger the nervous system damage characteristic of RS and what role aspirin plays in this life-threatening disorder. The ultimate goal of this research is to improve scientific understanding, diagnosis and medical treatment of RS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral Arteriosclerosis ? ### Response: Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. Cerebral arteriosclerosis can cause serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebral Arteriosclerosis ? ### Response: Treatment for cerebral arteriosclerosis can include medications or surgery. Physicians also may recommend treatments to help people control high blood pressure, quit cigarette smoking, and reduce cholesterol levels, all of which are risk factors for cerebral arteriosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebral Arteriosclerosis ? ### Response: Treatment for cerebral arteriosclerosis can include medications or surgery. Physicians also may recommend treatments to help people control high blood pressure, quit cigarette smoking, and reduce cholesterol levels, all of which are risk factors for cerebral arteriosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebral Arteriosclerosis ? ### Response: Treatment for cerebral arteriosclerosis can include medications or surgery. Physicians also may recommend treatments to help people control high blood pressure, quit cigarette smoking, and reduce cholesterol levels, all of which are risk factors for cerebral arteriosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schizencephaly ? ### Response: Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schizencephaly ? ### Response: Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schizencephaly ? ### Response: Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Schizencephaly ? ### Response: The NINDS conducts and supports a wide range of studies that explore the mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how to prevent or treat developmental brain defects such as schizencephaly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inflammatory Myopathies ? ### Response: The inflammatory myopathies are a group of diseases, with no known cause, that involve chronic muscle inflammation accompanied by muscle weakness. The three main types of chronic, or persistent, inflammatory myopathy are polymyositis, dermatomyositis, and inclusion body myositis (IBM). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Inflammatory Myopathies ? ### Response: The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Inflammatory Myopathies ? ### Response: Most cases of dermatomyositis respond to therapy. The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not respond adequately to therapies and are left with significant disability. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Inflammatory Myopathies ? ### Response: The National Institutes of Health (NIH), through the collaborative efforts of its National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Environmental Health Sciences (NIEHS), conducts and supports a wide range of research on neuromuscular disorders, including the inflammatory myopathies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stiff-Person Syndrome ? ### Response: Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stiff-Person Syndrome ? ### Response: People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Stiff-Person Syndrome ? ### Response: Treatment with IVIg, anti-anxiety drugs, muscle relaxants, anti-convulsants, and pain relievers will improve the symptoms of SPS, but will not cure the disorder. Most individuals with SPS have frequent falls and because they lack the normal defensive reflexes; injuries can be severe. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Stiff-Person Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to SPS in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary Spastic Paraplegia ? ### Response: Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary Spastic Paraplegia ? ### Response: Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary Spastic Paraplegia ? ### Response: Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hereditary Spastic Paraplegia ? ### Response: The NINDS supports research on genetic disorders such as HSP. More than 30 genes that are responsible for several forms of HSP have been identified, and many more will likely be identified in the future. These genes generally encode proteins that normally help maintain the function of axons in the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukodystrophy ? ### Response: Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukodystrophy ? ### Response: Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukodystrophy ? ### Response: Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukodystrophy ? ### Response: Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Canavan Disease ? ### Response: Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Canavan Disease ? ### Response: Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Canavan Disease ? ### Response: Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alexander Disease ? ### Response: Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alexander Disease ? ### Response: Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alexander Disease ? ### Response: Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Alexander Disease ? ### Response: Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this genecauses the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Narcolepsy ? ### Response: Narcolepsy is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. At various times throughout the day, people with narcolepsy experience irresistable bouts ofsleep. If the urge becomes overwhelming, individuals will fall asleep for periods lasting from a few seconds to several minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Narcolepsy ? ### Response: None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Narcolepsy ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research into narcolepsy and other sleep disorders in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Neurological Complications of AIDS ? ### Response: AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, headaches, progressive weakness and loss of sensation in the arms and legs, cognitive motor impairment, or damage to the peripheral nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neurological Complications of AIDS ? ### Response: No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically. Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurological Complications of AIDS ? ### Response: The overall prognosis for individuals with AIDS in recent years has improved significantly because of new drugs and treatments. AIDS clinicians often fail to recognize neurological complications of AIDS. Those who suspect they are having neurological complications should be sure to discuss these with their doctor. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neurological Complications of AIDS ? ### Response: Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one part of the National Institutes of Health (NIH), supports research on the neurological consequences of AIDS. The NINDS works closely with its sister agency, the National Institute of Allergy and Infectious Diseases (NIAID), which has primary responsibility for research related to HIV and AIDS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tabes Dorsalis ? ### Response: Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tabes Dorsalis ? ### Response: Penicillin, administered intravenously, is the treatment of choice. Associated pain can be treated with opiates, valproate, or carbamazepine. Patients may also require physical or rehabilitative therapy to deal with muscle wasting and weakness. Preventive treatment for those who come into sexual contact with an individual with tabes dorsalis is important. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tabes Dorsalis ? ### Response: Penicillin, administered intravenously, is the treatment of choice. Associated pain can be treated with opiates, valproate, or carbamazepine. Patients may also require physical or rehabilitative therapy to deal with muscle wasting and weakness. Preventive treatment for those who come into sexual contact with an individual with tabes dorsalis is important. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tabes Dorsalis ? ### Response: Penicillin, administered intravenously, is the treatment of choice. Associated pain can be treated with opiates, valproate, or carbamazepine. Patients may also require physical or rehabilitative therapy to deal with muscle wasting and weakness. Preventive treatment for those who come into sexual contact with an individual with tabes dorsalis is important. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes Zoster Oticus ? ### Response: Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes Zoster Oticus ? ### Response: Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes Zoster Oticus ? ### Response: Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Herpes Zoster Oticus ? ### Response: The NINDS supports research on shingles and shingles-related conditions. Current studies focus on the relationship between the persistence of neurotropic viruses and development of neurological diseases including herpes simplex and varicella-zoster viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemicrania Continua ? ### Response: Hemicrania continua is a chronic and persistent form of headache marked by continuous pain that varies in severity, always occurs on the same side of the face and head, and is superimposed with additional debilitating symptoms. on the continuous but fluctuating pain are occasional attacks of more severe pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemicrania Continua ? ### Response: Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemicrania Continua ? ### Response: Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hemicrania Continua ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to hemicrania continua through grants to medical research institutions across the country. Much of this research focuses on understanding hemicrania continua in order to finding better ways to prevent, treat, and ultimately cure the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal Choreoathetosis ? ### Response: Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal Choreoathetosis ? ### Response: Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal Choreoathetosis ? ### Response: Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal Choreoathetosis ? ### Response: Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tropical Spastic Paraparesis ? ### Response: For several decades the term tropical spastic paraparesis (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tropical Spastic Paraparesis ? ### Response: There is no established treatment program for HAM/TSP. Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Tropical Spastic Paraparesis ? ### Response: HAM/TSP is a progressive disease, but it is rarely fatal. Most individuals live for several decades after the diagnosis. Their prognosis improves if they take steps to prevent urinary tract infection and skin sores, and if they participate in physical and occupational therapy programs. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Tropical Spastic Paraparesis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to HAM/TSP in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpers' Disease ? ### Response: Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease. It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alpers' Disease ? ### Response: There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Alpers' Disease ? ### Response: The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Alpers' Disease ? ### Response: The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myasthenia Gravis ? ### Response: Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myasthenia Gravis ? ### Response: Myasthenia gravis can be controlled. Some medications improve neuromuscular transmission and increase muscle strength, and some suppress the production of abnormal antibodies. These medications must be used with careful medical follow up because they may cause major side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Myasthenia Gravis ? ### Response: With treatment, most individuals with myasthenia can significantly improve their muscle weakness. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Myasthenia Gravis ? ### Response: Scientists are evaluating new and improving current treatments for myasthenia gravis. Different drugs are being tested, either alone or in combination with existing drug therapies, to see if they are effective in treating the disorder. One study seeks to understand the molecular basis of synaptic transmission in the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Muscular Atrophy ? ### Response: Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Muscular Atrophy ? ### Response: Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Spinal Muscular Atrophy ? ### Response: The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe symptoms Life expectancy is reduced but some individuals live into adolescence or young adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Spinal Muscular Atrophy ? ### Response: Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alzheimer's Disease ? ### Response: Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Alzheimer's Disease ? ### Response: In very few families, people develop AD in their 30s, 40s, and 50s. This is known as ""early onset"" AD. These individuals have a mutation in one of three different inherited genes that causes the disease to begin at an earlier age. More than 90 percent of AD develops in people older than 65. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Incontinentia Pigmenti ? ### Response: Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Incontinentia Pigmenti ? ### Response: The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Incontinentia Pigmenti ? ### Response: The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Incontinentia Pigmenti ? ### Response: Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by genetic mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Whipple's Disease ? ### Response: Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whipple's Disease ? ### Response: The standard treatment for Whipple's disease is a prolonged course of antibiotics (up to two years), including penicillin and cefriaxone or doxycycline with hydroxychloroquine. Sulfa drugs (sulfonamides) such as sulfadizine or solfamethoxazole can treat neurological symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Whipple's Disease ? ### Response: Generally, long-term antibiotic treatment to destroy the bacteria can relieve symptoms and cure the disease. If left untreated, the disease is progressive and fatal. Individuals with involvement of the central nervous system generally have a worse prognosis and may be left with permanent neurologic disability. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Whipple's Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supportsa broad range of research on disorders that affect the central nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Landau-Kleffner Syndrome ? ### Response: Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Landau-Kleffner Syndrome ? ### Response: Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. A controversial treatment option involves a surgical technique called multiple subpial transection in which th " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Landau-Kleffner Syndrome ? ### Response: The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Landau-Kleffner Syndrome ? ### Response: The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Central Pain Syndrome ? ### Response: Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Central Pain Syndrome ? ### Response: Pain medications often provide some reduction of pain, but not complete relief of pain, for those affected by central pain syndrome. Tricyclic antidepressants such as nortriptyline or anticonvulsants such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Central Pain Syndrome ? ### Response: Pain medications often provide some reduction of pain, but not complete relief of pain, for those affected by central pain syndrome. Tricyclic antidepressants such as nortriptyline or anticonvulsants such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Central Pain Syndrome ? ### Response: The NINDS vigorously pursues a research program seeking new treatments for chronic pain and nervous system damage. The goals of this research are to develop ways to more effectively treat and potentially reverse debilitating conditions such as central pain syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Complex Regional Pain Syndrome ? ### Response: Complex regional pain syndrome (CRPS) is a chronic pain condition. The key symptom of CRPS is continuous, intense pain out of proportion to the severity of the injury, which gets worse rather than better over time. CRPS most often affects one of the arms, legs, hands, or feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Complex Regional Pain Syndrome ? ### Response: Because there is no cure for CRPS, treatment is aimed at relieving painful symptoms. Doctors may prescribe topical analgesics, antidepressants, corticosteroids, and opioids to relieve pain. However, no single drug or combination of drugs has produced consistent long-lasting improvement in symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Complex Regional Pain Syndrome ? ### Response: Because there is no cure for CRPS, treatment is aimed at relieving painful symptoms. Doctors may prescribe topical analgesics, antidepressants, corticosteroids, and opioids to relieve pain. However, no single drug or combination of drugs has produced consistent long-lasting improvement in symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Complex Regional Pain Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to CRPS and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arteriovenous Malformation ? ### Response: Arteriovenous malformations (AVMs) are abnormal, snarled tangles of blood vessels that cause multiple irregular connections between the arteries and veins. These malformations most often occur in the spinal cord and in any part of the brain or on its surface, but can develop elsewhere in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arteriovenous Malformation ? ### Response: Treatment options depend on the type of AVM, its location, noticeable symptoms, and the general health condition of the individual. Medication can often alleviate general symptoms such as headache, back pain, and seizures caused by AVMs and other vascular lesions. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Arteriovenous Malformation ? ### Response: The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully and consistently monitored for any signs of instability that may indicate an increased risk of hemorrhage. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Arteriovenous Malformation ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS has established an Arteriovenous Study Group to learn more about the natural causes of AVMs and to improve surgical treatment of these lesions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ataxia Telangiectasia ? ### Response: Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ataxia Telangiectasia ? ### Response: There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Ataxia Telangiectasia ? ### Response: Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ataxia Telangiectasia ? ### Response: NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klver-Bucy Syndrome ? ### Response: Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klver-Bucy Syndrome ? ### Response: Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klver-Bucy Syndrome ? ### Response: Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klver-Bucy Syndrome ? ### Response: Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Niemann-Pick Disease ? ### Response: Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Niemann-Pick Disease ? ### Response: There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Niemann-Pick Disease ? ### Response: Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with type C varies: some individuals die in childhood while others who appear to be less severely affected can live into adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Niemann-Pick Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts and supports research about Niemann-Pick disease through research grants to research institutions across the country. Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lennox-Gastaut Syndrome ? ### Response: Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lennox-Gastaut Syndrome ? ### Response: Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Lennox-Gastaut Syndrome ? ### Response: The NINDS conducts and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving the diagnosis, and developing new medications and other therapies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paresthesia ? ### Response: Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paresthesia ? ### Response: Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paresthesia ? ### Response: Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paresthesia ? ### Response: Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myoclonus ? ### Response: Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or ""sleep starts"" that some people experience while drifting off to sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myoclonus ? ### Response: Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Myoclonus ? ### Response: Simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. In some cases, myoclonus begins in one region of the body and spreads to muscles in other areas. More severe cases of myoclonus can distort movement and severely limit a person's ability to eat, talk, or walk. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Myoclonus ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dermatomyositis ? ### Response: Dermatomyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Dermatomyositis cardinal symptom is a skin rash that precedes, accompanies, or follows progressive muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dermatomyositis ? ### Response: There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dermatomyositis ? ### Response: There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dermatomyositis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to dermatomyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Agnosia ? ### Response: Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Agnosia ? ### Response: Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Agnosia ? ### Response: Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Agnosia ? ### Response: Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rett Syndrome ? ### Response: Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rett Syndrome ? ### Response: There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Rett Syndrome ? ### Response: The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Rett Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brachial Plexus Injuries ? ### Response: The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brachial Plexus Injuries ? ### Response: The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Brachial Plexus Injuries ? ### Response: The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Brachial Plexus Injuries ? ### Response: The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dementia ? ### Response: Dementia is not a specific disease. It is a descriptive term for a collection of symptoms that can be caused by a number of disorders that affect the brain. People with dementia have significantly impaired intellectual functioning that interferes with normal activities and relationships. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dementia ? ### Response: Drugs to specifically treat Alzheimers disease and some other progressive dementias are now available. Although these drugs do not halt the disease or reverse existing brain damage, they can improve symptoms and slow the progression of the disease. This may improve an individuals quality of life, ease the burden on caregivers, or delay admission to a nursing home. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dementia ? ### Response: There are many disorders that can cause dementia. Some, such as Alzheimers disease or Huntingtons disease, lead to a progressive loss of mental functions. But other types of dementia can be halted or reversed with appropriate treatment. People with moderate or advanced dementia typically need round-the-clock care and supervision to prevent them from harming themselves or others. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dementia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to dementia in laboratories at the NIH and also support additional dementia research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Motor Neuron Diseases ? ### Response: The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Motor Neuron Diseases ? ### Response: There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Motor Neuron Diseases ? ### Response: Prognosis varies depending on the type of MND and the age of onset. Some MNDs, such as primary lateral sclerosis and Kennedy disease, are not fatal and progress slowly. Patients with spinal muscular atrophy may appear to be stable for long periods, but improvement should not be expected. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Motor Neuron Diseases ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydrocephalus ? ### Response: Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hydrocephalus ? ### Response: Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to another area of the body where it can be absorbed as part of the circulatory process. A limited number of individuals can be treated with an alternative procedure called third ventriculostomy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hydrocephalus ? ### Response: The prognosis for individuals diagnosed with hydrocephalus is difficult to predict, although there is some correlation between the specific cause of hydrocephalus and the patient's outcome. Prognosis is further complicated by the presence of associated disorders, the timeliness of diagnosis, and the success of treatment. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hydrocephalus ? ### Response: The NINDS conducts and supports a wide range of fundamental studies that explore the complex mechanisms of normal brain development. Much of this research focuses on finding better ways to protect, treat, and ultimately cure disorders such as hydrocephalus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephaloceles ? ### Response: Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Encephaloceles ? ### Response: Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Encephaloceles ? ### Response: Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Encephaloceles ? ### Response: The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apraxia ? ### Response: Apraxia (called ""dyspraxia"" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apraxia ? ### Response: Apraxia (called ""dyspraxia"" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apraxia ? ### Response: Apraxia (called ""dyspraxia"" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apraxia ? ### Response: Apraxia (called ""dyspraxia"" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paraneoplastic Syndromes ? ### Response: Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a ""neoplasm."" Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paraneoplastic Syndromes ? ### Response: When present, the tumor and cancer are treated first, followed by efforts to decrease the autoimmune response -- either through steroids such as cortisone or prednisone, high-dose intravenous immunoglobulin, or irradiation. Plasmapheresis, a process that cleanses antibodies from the blood, may ease symptoms in people with paraneoplastic disorders that affect the peripheral nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paraneoplastic Syndromes ? ### Response: When present, the tumor and cancer are treated first, followed by efforts to decrease the autoimmune response -- either through steroids such as cortisone or prednisone, high-dose intravenous immunoglobulin, or irradiation. Plasmapheresis, a process that cleanses antibodies from the blood, may ease symptoms in people with paraneoplastic disorders that affect the peripheral nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Paraneoplastic Syndromes ? ### Response: Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers seek to learn what causes the autoimmune response in these disorders. Studies are directed at developing tests that detect the presence of antibodies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalencephaly ? ### Response: Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalencephaly ? ### Response: Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalencephaly ? ### Response: Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Megalencephaly ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathy ? ### Response: Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Neuropathy ? ### Response: The goal of treating diabetic neuropathy is to prevent further tissue damage and relieve discomfort. The first step is to bring blood sugar levels under control by diet and medication. Another important part of treatment involves taking special care of the feet by wearing proper fitting shoes and routinely checking the feet for cuts and infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Diabetic Neuropathy ? ### Response: The prognosis for diabetic neuropathy depends largely on how well the underlying condition of diabetes is handled. Treating diabetes may halt progression and improve symptoms of the neuropathy, but recovery is slow. The painful sensations of diabetic neuropathy may become severe enough to cause depression in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Diabetic Neuropathy ? ### Response: The prognosis for diabetic neuropathy depends largely on how well the underlying condition of diabetes is handled. Treating diabetes may halt progression and improve symptoms of the neuropathy, but recovery is slow. The painful sensations of diabetic neuropathy may become severe enough to cause depression in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wernicke-Korsakoff Syndrome ? ### Response: Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. B1 deficiency causes damage to the brain's thalamus and hypothalamus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wernicke-Korsakoff Syndrome ? ### Response: Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Wernicke-Korsakoff Syndrome ? ### Response: Most symptoms of Wernicke's encephalopathy can be reversed if detected and treated promptly and completely. Stopping alcohol use may prevent further nerve and brain damage. However, improvement in memory function is slow and, usually, incomplete. Without treatment, these disorders can be disabling and life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebellar Degeneration ? ### Response: Cerebellar degeneration is a process in which neurons in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system,including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cerebellar Degeneration ? ### Response: The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parry-Romberg ? ### Response: There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parry-Romberg ? ### Response: There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parry-Romberg ? ### Response: There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonia Congenita ? ### Response: Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myotonia Congenita ? ### Response: Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myotonia Congenita ? ### Response: Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Myotonia Congenita ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital Myopathy ? ### Response: A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be ""floppy,"" have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital Myopathy ? ### Response: A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be ""floppy,"" have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Congenital Myopathy ? ### Response: When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Congenital Myopathy ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ataxia ? ### Response: Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ataxia ? ### Response: There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ataxia ? ### Response: There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ataxia ? ### Response: The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Septo-Optic Dysplasia ? ### Response: Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Septo-Optic Dysplasia ? ### Response: Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Septo-Optic Dysplasia ? ### Response: Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Septo-Optic Dysplasia ? ### Response: The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin Lowry Syndrome ? ### Response: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin Lowry Syndrome ? ### Response: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin Lowry Syndrome ? ### Response: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lipoid Proteinosis ? ### Response: Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lipoid Proteinosis ? ### Response: There is no cure for LP. Some doctors have had success treating the skin eruptions with oral steroid drugs and oral dimethyl sulphoxide (DMSO). Carbon dioxide laser surgery of thickened vocal cords and eyelid bumps has proved helpful in some studies. Dermabrasion may improve the appearance of the skin lesions. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Lipoid Proteinosis ? ### Response: Lipoid proteinosis has a stable or slowly progressive course. Children with LP may have behavioral or learning difficulties, along with seizures. Obstruction in the throat may require a tracheostomy. Mortality rates in infants and adults are slightly increased because of problems with throat obstructions and upper respiratory tract infections. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Lipoid Proteinosis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to neurological diseases such as lipoid proteinosis in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kleine-Levin Syndrome ? ### Response: Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day). Symptoms occur as ""episodes,"" typically lasting a few days to a few weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kleine-Levin Syndrome ? ### Response: There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kleine-Levin Syndrome ? ### Response: There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kleine-Levin Syndrome ? ### Response: There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vasculitis Syndromes of the Central and Peripheral Nervous Systems ? ### Response: Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ? ### Response: Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ? ### Response: Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menkes Disease ? ### Response: Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menkes Disease ? ### Response: Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Menkes Disease ? ### Response: Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Menkes Disease ? ### Response: Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brain and Spinal Tumors ? ### Response: Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brain and Spinal Tumors ? ### Response: Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Brain and Spinal Tumors ? ### Response: Symptoms of brain and spinal cord tumors generally develop slowly and worsen over time unless they are treated. The tumor may be classified as benign or malignant and given a numbered score that reflects its rate of malignancy. This score can help doctors determine how to treat the tumor and predict the likely outcome, or prognosis, for the individual. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Brain and Spinal Tumors ? ### Response: Scientists continue to investigate ways to better understand, diagnose, and treat CNS tumors. Experimental treatment options may include new drugs, gene therapy, surgery , radiation, biologic modulators that enhance the body's overall immune system to recognize and fight cancer cells, and a combination of therapies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypersomnia ? ### Response: Hypersomnia is characterized by recurrent episodes of excessive daytime sleepiness or prolonged nighttime sleep. Different from feeling tired due to lack of or interrupted sleep at night, persons with hypersomnia are compelled to nap repeatedly during the day, often at inappropriate times such as at work, during a meal, or in conversation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypersomnia ? ### Response: Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hypersomnia ? ### Response: The prognosis for persons with hypersomnia depends on the cause of the disorder. While the disorder itself is not life threatening, it can have serious consequences, such as automobile accidents caused by falling asleep while driving. The attacks usually continue indefinitely. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hypersomnia ? ### Response: The prognosis for persons with hypersomnia depends on the cause of the disorder. While the disorder itself is not life threatening, it can have serious consequences, such as automobile accidents caused by falling asleep while driving. The attacks usually continue indefinitely. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Guillain-Barr Syndrome ? ### Response: Guillain-Barr syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Guillain-Barr Syndrome ? ### Response: There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy are used. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Guillain-Barr Syndrome ? ### Response: Guillain-Barr syndrome can be a devastating disorder because of its sudden and unexpected onset. Most people reach the stage of greatest weakness within the first 2 weeks after symptoms appear, and by the third week of the illness 90 percent of all patients are at their weakest. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Guillain-Barr Syndrome ? ### Response: Scientists are concentrating on finding new treatments and refining existing ones. Scientists are also looking at the workings of the immune system to find which cells are responsible for beginning and carrying out the attack on the nervous system. The fact that so many cases of Guillain-Barr begin after a viral or bacterial infection suggests that certain characteristics of some viruses and bacteria may activate the immune system inappropriately. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CADASIL ? ### Response: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CADASIL ? ### Response: There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CADASIL ? ### Response: There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for CADASIL ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH) and through grants to major medical institutions across the country. Scientists are currently studying different drugs to reduce cognitive problems seen in patients with CADASIL. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral Hypoxia ? ### Response: Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebral Hypoxia ? ### Response: Treatment depends on the underlying cause of the hypoxia, but basic life-support systems have to be put in place: mechanical ventilation to secure the airway; fluids, blood products, or medications to support blood pressure and heart rate; and medications to suppress seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cerebral Hypoxia ? ### Response: Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cerebral Hypoxia ? ### Response: Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral Atrophy ? ### Response: Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cerebral Atrophy ? ### Response: The NINDS funds research looking at many of the diseases and disorders that cause cerebral atrophy. Understanding the biological mechanisms that cause neurons to die in the brain will help researchers find ways to prevent, treat, and even cure the diseases that lead to cerebral atrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pinched Nerve ? ### Response: The term ""pinched nerve"" is a colloquial term and not a true medical term. It is used to describe one type of damage or injury to a nerve or set of nerves. The injury may result from compression, constriction, or stretching. Symptoms include numbness, ""pins and needles"" or burning sensations, and pain radiating outward from the injured area. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pinched Nerve ? ### Response: The most frequently recommended treatment for pinched nerve is rest for the affected area. Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be recommended to help alleviate pain. Physical therapy is often useful, and splints or collars may be used to relieve symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pinched Nerve ? ### Response: The most frequently recommended treatment for pinched nerve is rest for the affected area. Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be recommended to help alleviate pain. Physical therapy is often useful, and splints or collars may be used to relieve symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pinched Nerve ? ### Response: Within the NINDS research programs, pinched nerves are addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as pinched nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fabry Disease ? ### Response: Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fabry Disease ? ### Response: Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease. Enzyme replacement therapy can reduce lipid storage, ease pain, and preserve organ function in some individuals with the disorder. The pain that accompanies the disease may be treated with anticonvulsants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fabry Disease ? ### Response: Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease. Enzyme replacement therapy can reduce lipid storage, ease pain, and preserve organ function in some individuals with the disorder. The pain that accompanies the disease may be treated with anticonvulsants. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Fabry Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Iniencephaly ? ### Response: Iniencephaly is a rare birth defect caused by improper closure of the neural tube (the part of a human embryo that becomes the brain and spinal cord) during fetal development. Iniencephaly is in the same family of neural tube defects as spina bifida, but it is more severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Iniencephaly ? ### Response: There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic acid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Iniencephaly ? ### Response: There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic acid. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Iniencephaly ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to iniencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Developmental Dyspraxia ? ### Response: Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear ""out of sync"" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Developmental Dyspraxia ? ### Response: Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear ""out of sync"" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Developmental Dyspraxia ? ### Response: Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear ""out of sync"" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fibromuscular Dysplasia ? ### Response: Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fibromuscular Dysplasia ? ### Response: There is no standard protocol to treat FMD. Any treatment to improve blood flow is based on the arteries affected and the progression and severity of the disease. The carotid arteries should be tested if FMD is found elsewhere in the body since carotid involvement is linked to an increased risk of stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fibromuscular Dysplasia ? ### Response: There is no standard protocol to treat FMD. Any treatment to improve blood flow is based on the arteries affected and the progression and severity of the disease. The carotid arteries should be tested if FMD is found elsewhere in the body since carotid involvement is linked to an increased risk of stroke. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Fibromuscular Dysplasia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations primary funding source for research on the brain and nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Headache ? ### Response: There are four types of headache: vascular, muscle contraction (tension), traction, and inflammatory. Vascular headaches include ""cluster headaches, which cause repeated episodes of intense pain, and headaches resulting from high blood pressure,and toxic headache produced by fever. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Headache ? ### Response: When headaches occur three or more times a month, preventive treatment is usually recommended. Drug therapy, biofeedback training, stress reduction, and elimination of certain foods from the diet are the most common methods of preventing and controlling migraine and other vascular headaches. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Headache ? ### Response: Not all headaches require medical attention. But some types of headache are signals of more serious disorders and call for prompt medical care. These include: sudden, severe headache or sudden headache associated with a stiff neck; headaches associated with fever, convulsions, or accompanied by confusion or loss of consciousness; headaches following a blow to the head, or associated with pain in the eye or ear; persistent headache in a person who was previously headache free; and recurring headache in children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Headache ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to headaches at its laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebellar Hypoplasia ? ### Response: Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebellar Hypoplasia ? ### Response: Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Cerebellar Hypoplasia ? ### Response: The prognosis is dependent upon the underlying disorder. Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis. Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Cerebellar Hypoplasia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to cerebellar hypoplasia and its associated disorders through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders that feature cerebellar hypoplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transverse Myelitis ? ### Response: Transverse myelitis is a neurological disorder caused by inflammation across both sides of one level, or segment, of the spinal cord. The segment of the spinal cord at which the damage occurs determines which parts of the body are affected. Damage at one segment will affect function at that segment and segments below it. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Transverse Myelitis ? ### Response: No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Transverse Myelitis ? ### Response: Most individuals will have only one episode of transverse myelitis. Recovery usually begins within 2 to 12 weeks of the onset of symptoms and may continue for up to 2 years and in some cases longer--requiring aggressive physical therapy and rehabilitation. However, if there is no improvement within the first 3 to 6 months, complete recovery is unlikely (although some recovery can occur). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Transverse Myelitis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to transverse myelitis in its laboratories at the National Institutes of Health (NIH), and also supports additional transverse myelitis research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tremor ? ### Response: Tremor is an unintentional, rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although they can also affect the arms, head, face, voice, trunk, and legs. Sometimes tremor is a symptom of another neurological disorder or a side effect of certain drugs, but the most common form occurs in otherwise healthy people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tremor ? ### Response: There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pramipexole and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tremor ? ### Response: There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pramipexole and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Tremor ? ### Response: The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations leading federal funder of research on disorders of the brain and nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sandhoff Disease ? ### Response: Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sandhoff Disease ? ### Response: Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sandhoff Disease ? ### Response: Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Sandhoff Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health, the largest supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tethered Spinal Cord Syndrome ? ### Response: Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tethered Spinal Cord Syndrome ? ### Response: MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Tethered Spinal Cord Syndrome ? ### Response: With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable. Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Tethered Spinal Cord Syndrome ? ### Response: With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable. Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive Supranuclear Palsy ? ### Response: Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive Supranuclear Palsy ? ### Response: There is currently no effective treatment for PSP, although scientists are searching for better ways to manage the disease. In some patients the slowness, stiffness, and balance problems of PSP may respond to antiparkinsonian agents such as levodopa, or levodopa combined with anticholinergic agents, but the effect is usually temporary. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Progressive Supranuclear Palsy ? ### Response: PSP gets progressively worse but is not itself directly life-threatening. It does, however, predispose patients to serious complications such as pneumonia secondary to difficulty in swallowing (dysphagia). The most common complications are choking and pneumonia, head injury, and fractures caused by falls. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Progressive Supranuclear Palsy ? ### Response: PSP gets progressively worse but is not itself directly life-threatening. It does, however, predispose patients to serious complications such as pneumonia secondary to difficulty in swallowing (dysphagia). The most common complications are choking and pneumonia, head injury, and fractures caused by falls. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Binswanger's Disease ? ### Response: Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing (atherosclerosis) of arteries that feed the subcortical areas of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Binswanger's Disease ? ### Response: There is no specific course of treatment for BD. Treatment is symptomatic. People with depression or anxiety may require antidepressant medications such as the serotonin-specific reuptake inhibitors (SSRI) sertraline or citalopram. Atypical antipsychotic drugs, such as risperidone and olanzapine, can be useful in individuals with agitation and disruptive behavior. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Binswanger's Disease ? ### Response: BD is a progressive disease; there is no cure. Changes may be sudden or gradual and then progress in a stepwise manner. BD can often coexist with Alzheimer's disease. Behaviors that slow the progression of high blood pressure, diabetes, and atherosclerosis -- such as eating a healthy diet and keeping healthy wake/sleep schedules, exercising, and not smoking or drinking too much alcohol -- can also slow the progression of BD. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Binswanger's Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to BD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dravet Syndrome ? ### Response: Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dravet Syndrome ? ### Response: Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Dravet Syndrome ? ### Response: As children with Dravet syndrome get older, their decline in cognitive function stabilizes, and in many, it improves slightly. However, most teenagers with Dravet syndrome are dependent on caregivers. The degree of cognitive impairment appears to correlate with the frequency of seizures. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dravet Syndrome ? ### Response: The NINDS conducts and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related disorders is expected to lead to the development of effective drug therapies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucolipidoses ? ### Response: The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the bodys ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mucolipidoses ? ### Response: No cures or specific therapies for ML currently exists. Therapies are generally geared toward treating symptoms and providing supportive care to the child. For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Mucolipidoses ? ### Response: Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Mucolipidoses ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary Neuropathies ? ### Response: Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary Neuropathies ? ### Response: There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hereditary Neuropathies ? ### Response: The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hereditary Neuropathies ? ### Response: The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glossopharyngeal Neuralgia ? ### Response: Glossopharyngeal neuralgia (GN) is a rare pain syndrome that affects the glossopharyngeal nerve (the ninth cranial nerve that lies deep within the neck) and causes sharp, stabbing pulses of pain in the back of the throat and tongue, the tonsils, and the middle ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glossopharyngeal Neuralgia ? ### Response: Most doctors will attempt to treat the pain first with drugs. Some individuals respond well to anticonvulsant drugs, such as carbamazepine and gabapentin. Surgical options, including nerve resection, tractotomy, or microvascular decompression, should be considered when individuals either dont respond to, or stop responding to, drug therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Glossopharyngeal Neuralgia ? ### Response: Some individuals recover from an initial attack and never have another. Others will experience clusters of attacks followed by periods of short or long remission. Individuals may lose weight if they fear that chewing, drinking, or eating will cause an attack. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Glossopharyngeal Neuralgia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to GN and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as GN. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gaucher Disease ? ### Response: Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gaucher Disease ? ### Response: Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Gaucher Disease ? ### Response: Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gaucher Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shingles ? ### Response: Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shingles ? ### Response: The severity and duration of an attack of shingles can be significantly reduced by immediate treatment with antiviral drugs, which include acyclovir, valcyclovir, or famcyclovir. Antiviral drugs may also help stave off the painful after-effects of shingles known as postherpetic neuralgia. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Shingles ? ### Response: For most healthy people who receive treatment soon after the outbreak of blisters, the lesions heal, the pain subsides within 3 to 5 weeks, and the blisters often leave no scars. However, shingles is a serious threat in immunosuppressed individuals for example, those with HIV infection or who are receiving cancer treatments that can weaken their immune systems. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Shingles ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand why the varicella-zoster virus establishes latency uniquely in neurons and not in other cell types. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leigh's Disease ? ### Response: Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leigh's Disease ? ### Response: The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Leigh's Disease ? ### Response: The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Leigh's Disease ? ### Response: The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kuru ? ### Response: Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased family members. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kuru ? ### Response: Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased family members. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Kuru ? ### Response: Similar to other the TSEs, kuru had a long incubation period; it was years or even decades before an infected person showed symptoms. Because kuru mainly affected the cerebellum, which is responsible for coordination, the usual first symptoms were an unsteady gait, tremors, and slurred speech. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Kuru ? ### Response: Similar to other the TSEs, kuru had a long incubation period; it was years or even decades before an infected person showed symptoms. Because kuru mainly affected the cerebellum, which is responsible for coordination, the usual first symptoms were an unsteady gait, tremors, and slurred speech. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurodegeneration with Brain Iron Accumulation ? ### Response: NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neurodegeneration with Brain Iron Accumulation ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded researchers are developing a mouse model of an NBIA disorder to gain insight into the causes of the disease and accelerate ongoing efforts to identify therapeutics to treat it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pompe Disease ? ### Response: Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pompe Disease ? ### Response: Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pompe Disease ? ### Response: Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pompe Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country. Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dysgraphia ? ### Response: Dysgraphia is a neurological disorder characterized by writing disabilities. Specifically, the disorder causes a person's writing to be distorted or incorrect. In children, the disorder generally emerges when they are first introduced to writing. They make inappropriately sized and spaced letters, or write wrong or misspelled words, despite thorough instruction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dysgraphia ? ### Response: Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dysgraphia ? ### Response: Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Dysgraphia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dysgraphia research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat, and ultimately, prevent dysgraphia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Orthostatic Hypotension ? ### Response: Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position. It is due to a lesion of the baroreflex loop, which senses a change in blood pressure and adjusts heart rate and activates sympathetic nerve system fibers to cause the blood vessels to narrow and correct blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Orthostatic Hypotension ? ### Response: When orthostatic hypotension is caused by hypovolemia due to medications, the disorder may be reversed by adjusting the dosage or by discontinuing the medication. When the condition is caused by prolonged bed rest, improvement may occur by sitting up with increasing frequency each day. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Orthostatic Hypotension ? ### Response: When orthostatic hypotension is caused by hypovolemia due to medications, the disorder may be reversed by adjusting the dosage or by discontinuing the medication. When the condition is caused by prolonged bed rest, improvement may occur by sitting up with increasing frequency each day. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Orthostatic Hypotension ? ### Response: When orthostatic hypotension is caused by hypovolemia due to medications, the disorder may be reversed by adjusting the dosage or by discontinuing the medication. When the condition is caused by prolonged bed rest, improvement may occur by sitting up with increasing frequency each day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Huntington's Disease ? ### Response: Huntington's disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas. Symptoms of the disease, which gets progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgment, and cognition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Huntington's Disease ? ### Response: There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntingtons-associated chorea. It is the only drug approved by the U.S. Food and Drug Administration specifically for use against HD. Antipsychotic drugs may help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Huntington's Disease ? ### Response: There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntingtons-associated chorea. It is the only drug approved by the U.S. Food and Drug Administration specifically for use against HD. Antipsychotic drugs may help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Huntington's Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. A major focus of research on HD is to understand the toxicity of mutant huntingin protein to brain cells and to develop potential drugs for counteracting it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transmissible Spongiform Encephalopathies ? ### Response: Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a ""spongy"" appearance. These holes can be seen when brain tissue is viewed under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transmissible Spongiform Encephalopathies ? ### Response: Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a ""spongy"" appearance. These holes can be seen when brain tissue is viewed under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Transmissible Spongiform Encephalopathies ? ### Response: There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Transmissible Spongiform Encephalopathies ? ### Response: There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurosarcoidosis ? ### Response: Neurosarcoidosis is a manifestation of sarcoidosis in the nervous system. Sarcoidosis is a chronic inflammatory disorder that typically occurs in adults between 20 and 40 years of age and primarily affects the lungs, but can also impact almost every other organ and system in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurosarcoidosis ? ### Response: The prognosis for patients with neurosarcoidosis varies. Approximately two-thirds of those with the condition will recover completely; the remainder will have a chronically progressing or on-and-off course of illness. Complications resulting from immunosuppressive treatments, such as cryptococcal and tuberculous meningitis, progressive multifocal leukoencephalopathy, and inclusion body myositis, may be fatal for a small percentage of individuals. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neurosarcoidosis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) has joined with other institutes of the National Institutes of Health (NIH) to form a trans-NIH working group to coordinate and fund research into the disease mechanisms of sarcoidosis, predisposing factors, genetic underpinnings, and the potential for clinical therapies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial Myopathy ? ### Response: Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energy-producing structures that serve as the cells' ""power plants."" Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial Myopathy ? ### Response: Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial Myopathy ? ### Response: Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial Myopathy ? ### Response: Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lissencephaly ? ### Response: Lissencephaly, which literally means ""smooth brain,"" is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lissencephaly ? ### Response: There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Lissencephaly ? ### Response: The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development -- usually not beyond a 3- to 5-month-old level. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Lissencephaly ? ### Response: The NINDS conducts and supports a wide range of studies that explore the complex systems of normal brain development, including neuronal migration. Recent studies have identified genes that are responsible for lissencephaly. The knowledge gained from these studies provides the foundation for developing treatments and preventive measures for neuronal migration disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple System Atrophy with Orthostatic Hypotension ? ### Response: Multiple system atrophy with orthostatic hypotension is the current classification for a neurological disorder that was once called Shy-Drager syndrome. A progressive disorder of the central and autonomic nervous systems, it is characterized by orthostatic hypotension (an excessive drop in blood pressure when standing up) which causes dizziness or fainting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple System Atrophy with Orthostatic Hypotension ? ### Response: There is no cure for multiple system atrophy with orthostatic hypotension. Treatment is aimed at controlling symptoms. Anti-Parkinson medication such as Sinemet may improve the general sense of well-being. Medications to elevate blood pressure while standing are often used, but may cause high blood pressure when lying down. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple System Atrophy with Orthostatic Hypotension ? ### Response: There is no cure for multiple system atrophy with orthostatic hypotension. Treatment is aimed at controlling symptoms. Anti-Parkinson medication such as Sinemet may improve the general sense of well-being. Medications to elevate blood pressure while standing are often used, but may cause high blood pressure when lying down. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Multiple System Atrophy with Orthostatic Hypotension ? ### Response: The NINDS supports research on disorders of the autonomic nervous system, including multiple system atrophy with orthostatic hypotension. This research is aimed at developing techniques to diagnose, treat, and prevent these disorders. Currently there are ongoing treatment trials of drugs to treat MSA. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transient Ischemic Attack ? ### Response: A transient ischemic attack (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Transient Ischemic Attack ? ### Response: Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Transient Ischemic Attack ? ### Response: TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Transient Ischemic Attack ? ### Response: TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porencephaly ? ### Response: Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porencephaly ? ### Response: Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Porencephaly ? ### Response: The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Porencephaly ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to porencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Machado-Joseph Disease ? ### Response: MJD is incurable, but some symptoms of the disease can be treated. For those individuals who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Machado-Joseph Disease ? ### Response: The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is a progressive disease, meaning that symptoms get worse with time. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Machado-Joseph Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts MJD research in its laboratories at the National Institutes of Health (NIH) and also supports MJD research through grants to major medical institutions across the country. Ongoing research includes studies to better understand the genetic, molecular, and cellular mechanisms that underlie inherited neurodegenerative diseases such as MJD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sleep Apnea ? ### Response: Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the disturbances in their sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sleep Apnea ? ### Response: There are a variety of treatments for sleep apnea, depending on an individuals medical history and the severity of the disorder. Most treatment regimens begin with lifestyle changes, such as avoiding alcohol and medications that relax the central nervous system (for example, sedatives and muscle relaxants), losing weight, and quitting smoking. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sleep Apnea ? ### Response: Untreated, sleep apnea can be life threatening. Excessive daytime sleepiness can cause people to fall asleep at inappropriate times, such as while driving. Sleep apnea also appears to put individuals at risk for stroke and transient ischemic attacks (TIAs, also known as mini-strokes), and is associated with coronary heart disease, heart failure, irregular heartbeat, heart attack, and high blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Sleep Apnea ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to sleep apnea in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Central Pontine Myelinolysis ? ### Response: Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Central Pontine Myelinolysis ? ### Response: The ideal treatment for myelinolysis is to prevent the disorder by identifying individuals at risk and following careful guidelines for evaluation and correction of hyponatremia. These guidelines aim to safely restore the serum sodium level, while protecting the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Central Pontine Myelinolysis ? ### Response: The prognosis for myelinolysis varies. Some individuals die and others recover completely. Although the disorder was originally considered to have a mortality rate of 50 percent or more, improved imaging techniques and early diagnosis have led to a better prognosis for many people. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Central Pontine Myelinolysis ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Von Hippel-Lindau Disease (VHL) ? ### Response: von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Von Hippel-Lindau Disease (VHL) ? ### Response: Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. this pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Von Hippel-Lindau Disease (VHL) ? ### Response: The prognosis for individuals with VHL depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Von Hippel-Lindau Disease (VHL) ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroaxonal dystrophy ? ### Response: Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neuroaxonal dystrophy ? ### Response: There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exercise arms and legs to maintain comfort. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neuroaxonal dystrophy ? ### Response: INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a babys development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neuroaxonal dystrophy ? ### Response: Researchers continue to search for the defective gene that causes INAD in hopes of developing drugs that can stop the disease. The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to INAD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chiari Malformation ? ### Response: Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition. Some CMs have no noticeable symptoms and do not interfere with the person's activities of daily living. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chiari Malformation ? ### Response: Many people with Type I CM are asymptomatic and do not know they have the condition. Many individuals with the more severe types of CM and have surgery see a reduction in their symptoms and/or prolonged periods of relative stability, although paralysis is generally permanent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurotoxicity ? ### Response: Neurotoxicity occurs when the exposure to natural or manmade toxic substances (neurotoxicants) alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key cells that transmit and process signals in the brain and other parts of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurotoxicity ? ### Response: Neurotoxicity occurs when the exposure to natural or manmade toxic substances (neurotoxicants) alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key cells that transmit and process signals in the brain and other parts of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neurotoxicity ? ### Response: The prognosis depends upon the length and degree of exposure and the severity of neurological injury. In some instances, exposure to neurotoxicants can be fatal. In others, patients may survive but not fully recover. In other situations, many individuals recover completely after treatment. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neurotoxicity ? ### Response: The NINDS supports research on disorders of the brain and nervous system such as neurotoxicity, aimed at learning more about these disorders and finding ways to prevent and treat them. Scientists are investigating the role occupational or environmental toxicants have on progressive neurodegenerative disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital Myasthenia ? ### Response: All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release the neurotransmitter properly, and the muscle cell must be able to detect the neurotransmitter and respond to its signal properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital Myasthenia ? ### Response: The possibilities for treatment depend on the specific subtype of congenital myasthenia. Most treatments attempt to improve the signaling between nerve cell and muscle. These drugs include pyridostigmine, fluoxetine, ephedrine, and 3,4-diaminopyridine. Treatments to alter the immune system are not used for this form of myasthenia. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Congenital Myasthenia ? ### Response: The prognosis depends on the specific subtype of congenital myasthenia, the muscles involved, and the age at onset of symptoms. If a child has difficulty breathing, feeding, or swallowing, they may be vulnerable to pneumonia or respiratory failure. In other cases, weakness is stable and does not worsen over time. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Congenital Myasthenia ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to congenital myasthenia through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat and ultimately cure disorders such as congenital myasthenia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Attention Deficit-Hyperactivity Disorder ? ### Response: Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Attention Deficit-Hyperactivity Disorder ? ### Response: The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Attention Deficit-Hyperactivity Disorder ? ### Response: The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Attention Deficit-Hyperactivity Disorder ? ### Response: Several components of the NIH support research on developmental disorders such as ADHD. Research programs of the NINDS, the National Institute of Mental Health (NIMH), and the National Institute of Child Health and Human Development (NICHD) seek to address unanswered questions about the causes of ADHD, as well as to improve diagnosis and treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Essential Tremor ? ### Response: Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. Essential tremor (previously called benign essential tremor) is the most common form of abnormal tremor. (In some people, tremor is a symptom of a neurological disorder or appears as a side effect of certain drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Essential Tremor ? ### Response: There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor ""triggers"" such as caffeine and other stimulants from the diet is often recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Essential Tremor ? ### Response: Although essential tremor is not life-threatening, it can make it harder to perform daily tasks and is embarrassing to some people. Tremor frequency may decrease as the person ages, but the severity may increase, affecting the person's ability to perform certain tasks or activities of daily living. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Essential Tremor ? ### Response: The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epilepsy ? ### Response: The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Epilepsy ? ### Response: Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Epilepsy ? ### Response: While epilepsy cannot be cured, for some people the seizures can be controlled with medication, diet, devices, and/or surgery. Most seizures do not cause brain damage, but ongoing uncontrolled seizures may cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and emotional problems in conjunction with seizures. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Epilepsy ? ### Response: Scientists are studying the underlying causes of the epilepsies in children, adults, and the elderly, as well as seizures that occur following brain trauma, stroke, and brain tumors. Ongoing research is focused on developing new model systems that can be used to more quickly screen potential new treatments for the epilepsies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zellweger Syndrome ? ### Response: Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Zellweger Syndrome ? ### Response: There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Zellweger Syndrome ? ### Response: There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Zellweger Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coma ? ### Response: A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coma ? ### Response: Once an individual is out of immediate danger, the medical care team focuses on preventing infections and maintaining a healthy physical state. This will often include preventing pneumonia and bedsores and providing balanced nutrition. Physical therapy may also be used to prevent contractures (permanent muscular contractions) and deformities of the bones, joints, and muscles that would limit recovery for those who emerge from coma. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Coma ? ### Response: The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and more ability to respond. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Coma ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to coma in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute Disseminated Encephalomyelitis ? ### Response: Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but widespread attack of inflammation in the brain and spinal cord that damages myelin the protective covering of nerve fibers. ADEM often follows viral or bacterial infections, or less often, vaccination for measles, mumps, or rubella. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acute Disseminated Encephalomyelitis ? ### Response: Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy are possible secondary treatment options that are reported to help in some severe cases. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Acute Disseminated Encephalomyelitis ? ### Response: Corticosteroid therapy typically helps hasten recovery from most ADEM symptoms. The long-term prognosis for individuals with ADEM is generally favorable. For most individuals, recovery begins within days, and within six months the majority of ADEM patients will have total or near total recoveries. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Acute Disseminated Encephalomyelitis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to ADEM in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonia ? ### Response: Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonia ? ### Response: Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonia ? ### Response: Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Myotonia ? ### Response: The National Institute of Neurological Disorders and Stroke supports and conducts an extensive research program on neuromuscular disorders. The goals of this research are to learn more about these disorders and to find ways to treat, prevent, and cure them. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Creutzfeldt-Jakob Disease ? ### Response: There is no treatment that can cure or control CJD, although studies of a variety of drugs are now in progress. Current treatment is aimed at alleviating symptoms and making the person as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Creutzfeldt-Jakob Disease ? ### Response: About 70 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Creutzfeldt-Jakob Disease ? ### Response: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The leading scientific theory at this time maintains that CJD is caused by a type of protein called a prion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chorea ? ### Response: Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chorea ? ### Response: There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chorea ? ### Response: There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chorea ? ### Response: There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ohtahara Syndrome ? ### Response: Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ohtahara Syndrome ? ### Response: Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. In cases where there is a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Ohtahara Syndrome ? ### Response: The course of Ohtahara syndrome is severely progressive. Seizures become more frequent, accompanied by delays in physical and cognitive development.Some children will die in infancy; others will survive but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ohtahara Syndrome ? ### Response: The NINDS conducts and supports an extensive research program on seizures and seizure-related disorders. Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Postural Tachycardia Syndrome ? ### Response: Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Postural Tachycardia Syndrome ? ### Response: Therapies for POTS are targeted at relieving low blood volume or regulating circulatory problems that could be causing the disorder. No single treatment has been found to be effect for all. A number of drugs seem to be effective in the short term. Whether they help in long term is uncertain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Postural Tachycardia Syndrome ? ### Response: Therapies for POTS are targeted at relieving low blood volume or regulating circulatory problems that could be causing the disorder. No single treatment has been found to be effect for all. A number of drugs seem to be effective in the short term. Whether they help in long term is uncertain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Postural Tachycardia Syndrome ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) conduct research related to POTS and support additional research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rasmussen's Encephalitis ? ### Response: Rasmussens encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rasmussen's Encephalitis ? ### Response: Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Rasmussen's Encephalitis ? ### Response: The prognosis for individuals with Rasmussens encephalitis varies. Despite the advances in medical treatment, none has yet been shown to halt the progress of the disease in the long term. The disorder may lead to severe neurological deficits or it may cause only milder impairments. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Rasmussen's Encephalitis ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Rasmussens encephalitis in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sydenham Chorea ? ### Response: Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sydenham Chorea ? ### Response: There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Sydenham Chorea ? ### Response: Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, usually in the form of endocarditis. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Sydenham Chorea ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fahr's Syndrome ? ### Response: Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Fahr's Syndrome ? ### Response: The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Fahr's Syndrome ? ### Response: The NINDS supports and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lactose Intolerance ? ### Response: Lactose is a sugar found in milk and milk products. The small intestinethe organ where most food digestion and nutrient absorption take placeproduces an enzyme called lactase. Lactase breaks down lactose into two simpler forms of sugar: glucose and galactose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lactose Intolerance ? ### Response: Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. Lactase deficiency and lactose malabsorption may lead to lactose intolerance: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lactose Intolerance ? ### Response: Four types of lactase deficiency may lead to lactose intolerance: - Primary lactase deficiency, also called lactase nonpersistence, is the most common type of lactase deficiency. In people with this condition, lactase production declines over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lactose Intolerance ? ### Response: Common symptoms of lactose intolerance include - abdominal bloating, a feeling of fullness or swelling in the abdomen - abdominal pain - diarrhea - gas - nausea Symptoms occur 30 minutes to 2 hours after consuming milk or milk products. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lactose Intolerance ? ### Response: A health care provider makes a diagnosis of lactose intolerance based on - medical, family, and diet history, including a review of symptoms - a physical exam - medical tests Medical, family, and diet history. A health care provider will take a medical, family, and diet history to help diagnose lactose intolerance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lactose Intolerance ? ### Response: Many people can manage the symptoms of lactose intolerance by changing their diet. Some people may only need to limit the amount of lactose they eat or drink. Others may need to avoid lactose altogether. Using lactase products can help some people manage their symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Lactose Intolerance ? ### Response: People may find it helpful to talk with a health care provider or a registered dietitian about a dietary plan. A dietary plan can help people manage the symptoms of lactose intolerance and make sure they get enough nutrients. Parents, caretakers, childcare providers, and others who serve food to children with lactose intolerance should follow the dietary plan recommended by the childs health care provider or registered dietitian. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Lactose Intolerance ? ### Response: - Lactose is a sugar found in milk and milk products. - Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. - A health care provider makes a diagnosis of lactose intolerance based on medical, family, and diet history, including a review of symptoms; a physical exam; and medical tests. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Crohn's Disease ? ### Response: Crohn's disease is a disease that causes inflammation,* or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. The part most commonly affected is the end part of the small intestine, called the ileum. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Crohn's Disease ? ### Response: Crohn's disease is a disease that causes inflammation,* or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. The part most commonly affected is the end part of the small intestine, called the ileum. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Crohn's Disease ? ### Response: Researchers are studying the possible causes of Crohns disease. Your bodys natural defense system, called the immune system, protects you from infection by fighting against bacteria, viruses, and other things that can make you sick. Researchers believe that with Crohns disease, the immune system attacks harmless bacteria and viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Crohn's Disease ? ### Response: Crohn's disease symptoms can be different for each person. The most common symptoms of Crohns disease are - abdominal painoften in the lower right area of the abdomen - diarrhea - bleeding in the rectum, which can be seen in a persons und " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Crohn's Disease ? ### Response: A doctor will perform a physical exam and tests to diagnose Crohns disease. During your visit, the doctor will ask about your symptoms and medical history. The doctor may order blood tests, which involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Crohn's Disease ? ### Response: Intestinal blockage can occur in people with Crohns disease when scar tissue blocks the intestinal passage. A narrow intestinal passage is called a stricture. When the passage blocks completely, food and stool stop moving, causing abdominal cramps and vomiting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Crohn's Disease ? ### Response: Treatment for Crohns disease depends on - where the disease is located in the GI tract - what problems you already have from the disease - what past treatments you have had for the disease The goals of treatment are to " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Crohn's Disease ? ### Response: Your health care provider may start you on a special diet, so you get extra nutrition and calories. High-calorie liquid supplements are often used to give you the extra calories and right amount of vitamins and minerals to keep you healthy. During acute phases of the disease, you may need to receive intravenous nutrition to give the intestine a rest. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Crohn's Disease ? ### Response: - Crohn's disease is a disease that causes inflammation, or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. - People with Crohns disease may have a blood relative with the disease or another type of inflammatory bowel disease (IBD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smoking and the Digestive System ? ### Response: The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the colon and rectumand anus. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Smoking and the Digestive System? ? ### Response: Smoking has been found to increase the risk of cancers of the3 - mouth - esophagus - stomach - pancreas 3 , 4 , 5 - liver - colon - rectum " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smoking and the Digestive System ? ### Response: Smoking contributes to many common disorders of the digestive system, such as heartburn and gastroesophageal reflux disease (GERD), peptic ulcers, and some liver diseases. Smoking increases the risk of Crohns disease, colon polyps, and pancreatitis, and it may increase the risk of gallstones. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Smoking and the Digestive System ? ### Response: Eating, diet, and nutrition can play a role in causing, preventing, and treating some of the diseases and disorders of the digestive system that are affected by smoking, including heartburn and GERD, liver diseases, Crohns disease, colon polyps, pancreatitis, and gallstones. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Smoking and the Digestive System ? ### Response: - Smoking has been found to increase the risk of cancers of the mouth, esophagus, stomach, and pancreas. Research suggests that smoking may also increase the risk of cancers of the liver, colon, and rectum. - Smoking increases the risk of heartburn and gastroesophageal reflux disease (GERD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure and Kidney Disease ? ### Response: Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. Factors that can increase this force include higher blood volume due to extra fluid in the blood and blood vessels that are narrow, stiff, or clogged. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure and Kidney Disease ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High Blood Pressure and Kidney Disease ? ### Response: Most people with high blood pressure do not have symptoms. In rare cases, high blood pressure can cause headaches. Kidney disease also does not have symptoms in the early stages. A person may have swelling called edema, which happens when the kidneys cannot get rid of extra fluid and salt. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Pressure and Kidney Disease ? ### Response: A health care provider diagnoses high blood pressure when multiple blood pressure testsoften repeated over several visits to a health care providers officeshow that a systolic blood pressure is consistently above 140 or a diastolic blood pressure is consistently above 90. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent High Blood Pressure and Kidney Disease ? ### Response: The best way to slow or prevent kidney disease from high blood pressure is to take steps to lower blood pressure. These steps include a combination of medication and lifestyle changes, such as - healthy eating - physical activity - maintaining a healthy weight - quitting smoking - managing stress " "Below is an instruction from Human. Write a response. ### Instruction: What to do for High Blood Pressure and Kidney Disease ? ### Response: Following a healthy eating plan can help lower blood pressure. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan. DASH focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for High Blood Pressure and Kidney Disease ? ### Response: - Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypoglycemia ? ### Response: Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypoglycemia ? ### Response: Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypoglycemia ? ### Response: Hypoglycemia causes symptoms such as - hunger - shakiness - nervousness - sweating - dizziness or light-headedness - sleepiness - confusion - difficulty speaking - anxiety - weakness Hypoglycemia can also happen during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypoglycemia ? ### Response: Hypoglycemia causes symptoms such as - hunger - shakiness - nervousness - sweating - dizziness or light-headedness - sleepiness - confusion - difficulty speaking - anxiety - weakness Hypoglycemia can also happen during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hypoglycemia ? ### Response: Diabetes treatment plans are designed to match the dose and timing of medication to a person's usual schedule of meals and activities. Mismatches could result in hypoglycemia. For example, taking a dose of insulinor other medication that increases insulin levelsbut then skipping a meal could result in hypoglycemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypoglycemia ? ### Response: Signs and symptoms of hypoglycemia vary from person to person. People with diabetes should get to know their signs and symptoms and describe them to their friends and family so they can help if needed. School staff should be told how to recognize a child's signs and symptoms of hypoglycemia and how to treat it. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypoglycemia ? ### Response: Signs and symptoms of hypoglycemia vary from person to person. People with diabetes should get to know their signs and symptoms and describe them to their friends and family so they can help if needed. School staff should be told how to recognize a child's signs and symptoms of hypoglycemia and how to treat it. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hypoglycemia ? ### Response: Two types of hypoglycemia can occur in people who do not have diabetes: - Reactive hypoglycemia, also called postprandial hypoglycemia, occurs within 4 hours after meals. - Fasting hypoglycemia, also called postabsorptive hypoglycemia, is often related to an underlying disease. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hypoglycemia ? ### Response: Diabetes-related Hypoglycemia - When people with diabetes think their blood glucose level is low, they should check it and treat the problem right away. - To treat hypoglycemia, people should have a serving of a quick-fix food, wait 15 minutes, and check their blood glucose again. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones in Adults ? ### Response: A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones in Adults ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kidney Stones in Adults? ? ### Response: Anyone can get a kidney stone, but some people are more likely to get one. Men are affected more often than women, and kidney stones are more common in non-Hispanic white people than in non-Hispanic black people and Mexican Americans. Overweight and obese people are more likely to get a kidney stone than people of normal weight. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kidney Stones in Adults ? ### Response: Kidney stones can form when substances in the urinesuch as calcium, oxalate, and phosphorusbecome highly concentrated. Certain foods may promote stone formation in people who are susceptible, but scientists do not believe that eating any specific food causes stones to form in people who are not susceptible. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones in Adults ? ### Response: Four major types of kidney stones can form: - Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation may be caused by high calcium and high oxalate excretion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kidney Stones in Adults ? ### Response: People with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. People may experience nausea and vomiting with the pain. However, people who have small stones that pass easily through the urinary tract may not have symptoms at all. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kidney Stones in Adults ? ### Response: To diagnose kidney stones, the health care provider will perform a physical exam and take a medical history. The medical history may include questions about family history of kidney stones, diet, GI problems, and other diseases and disorders. The health care provider may perform urine, blood, and imaging tests, such as an x ray or computerized tomography (CT) scan to complete the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Stones in Adults ? ### Response: Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Kidney stones may be treated by a general practitioner or by a urologista doctor who specializes in the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Kidney Stones in Adults ? ### Response: The first step in preventing kidney stones is to understand what is causing the stones to form. The health care provider may ask the person to try to catch the kidney stone as it passes, so it can be sent to a lab for analysis. Stones that are retrieved surgically can also be sent to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Stones in Adults ? ### Response: - A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. - Kidney stones are one of the most common disorders of the urinary tract. - Certain foods may promote stone formation in people who are susceptible, but scientists do not believe that eating any specific food causes stones to form in people who are not susceptible. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anemia in Chronic Kidney Disease ? ### Response: Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. With anemia, red blood cells carry less oxygen to tissues and organsparticularly the heart and brainand those tissues and organs may not function as well as they should. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anemia in Chronic Kidney Disease ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Anemia in Chronic Kidney Disease ? ### Response: When kidneys are diseased or damaged, they do not make enough EPO. As a result, the bone marrow makes fewer red blood cells, causing anemia. When blood has fewer red blood cells, it deprives the body of the oxygen it needs. Other common causes of anemia in people with kidney disease include blood loss from hemodialysis and low levels of the following nutrients found in food: " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anemia in Chronic Kidney Disease ? ### Response: The signs and symptoms of anemia in someone with CKD may include - weakness - fatigue, or feeling tired - headaches - problems with concentration - paleness - dizziness - difficulty breathing or shortness of breath - chest pain " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Anemia in Chronic Kidney Disease ? ### Response: Heart problems are a complication of anemia and may include - an irregular heartbeat or an unusually fast heartbeat, especially when exercising. - the harmful enlargement of muscles in the heart. - heart failure, which does not mean the heart suddenly stops working. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anemia in Chronic Kidney Disease ? ### Response: A health care provider diagnoses anemia based on - a medical history - a physical exam - blood tests Medical History Taking a medical history is one of the first things a health care provider may do to diagnose anemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Anemia in Chronic Kidney Disease ? ### Response: Depending on the cause, a health care provider treats anemia with one or more of the following treatments: Iron The first step in treating anemia is raising low iron levels. Iron pills may help improve iron and hemoglobin levels. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Anemia in Chronic Kidney Disease ? ### Response: A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets. Some of these foods are high in sodium or phosphorus, which people with CKD should limit in their diet. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Anemia in Chronic Kidney Disease ? ### Response: - Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. - Anemia commonly occurs in people with chronic kidney disease (CKD)the permanent, partial loss of kidney function. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lupus Nephritis ? ### Response: Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). SLE is an autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs. Up to 60 percent of people with SLE are diagnosed with lupus nephritis, which can lead to significant illness and even death. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lupus Nephritis ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lupus Nephritis ? ### Response: The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face. Kidney problems often develop at the same time or shortly after lupus symptoms appear and can include " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lupus Nephritis ? ### Response: Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy: - Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lupus Nephritis ? ### Response: Lupus nephritis is treated with medications that suppress the immune system, so it stops attacking and damaging the kidneys. Standard treatment includes a corticosteroid, usually prednisone, to reduce inflammation in the kidneys. An immunosuppressive medication, such as cyclophosphamide or mycophenolate mofetil, is typically used with prednisone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Lupus Nephritis ? ### Response: In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Lupus Nephritis ? ### Response: Eating, diet, and nutrition have not been shown to play a role in causing or preventing lupus nephritis. People with kidney disease that progresses may need to talk with a health care provider about changes they may need to make to their diet. People with lupus nephritis and high blood pressure may benefit from reducing sodium intake, often from salt. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Lupus Nephritis ? ### Response: - Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). - The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edema. - Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ? ### Response: Dermatitis herpetiformis is caused by the deposit of immunoglobulin A (IgA) in the skin, which triggers further immunologic reactions resulting in lesion formation. DH is an external manifestation of an abnormal immune response to gluten, in which IgA antibodies form against the skin antigen epidermal transglutaminase. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ? ### Response: A skin biopsy is the first step in diagnosing DH. Direct immunofluorescence of clinically normal skin adjacent to a lesion shows granular IgA deposits in the upper dermis. Histology of lesional skin may show microabscesses containing neutrophils and eosinophils. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ? ### Response: The sulfone dapsone can provide immediate relief of symptoms. For patients who cannot tolerate dapsone, sulfapyridine or sulfamethoxypyridazine may be used, although these medications are less effective than dapsone. A strict gluten-free diet is the only treatment for the underlying disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Goodpasture Syndrome ? ### Response: The causes of Goodpasture syndrome are not fully understood. People who smoke or use hair dyes appear to be at increased risk for this condition. Exposure to hydrocarbon fumes, metallic dust, and certain drugs, such as cocaine, may also raise a persons risk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Goodpasture Syndrome ? ### Response: The symptoms of Goodpasture syndrome may initially include fatigue, nausea, vomiting, and weakness. The lungs are usually affected before or at the same time as the kidneys, and symptoms can include shortness of breath and coughing, sometimes with blood. The progression from initial symptoms to the lungs being affected may be very rapid. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Goodpasture Syndrome ? ### Response: A health care provider may order the following tests to diagnose Goodpasture syndrome: - Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Goodpasture Syndrome ? ### Response: Goodpasture syndrome is usually treated with - immunosuppressive medications, such as cyclophosphamide, to keep the immune system from making antibodies - corticosteroid medications to suppress the bodys autoimmune response - plasmapheresisa procedure that uses a machine to remove blood from the body, separate certain cells from the plasma, and return just the cells to the persons body; the anti-GBM antibodies remain in the plasma and are not returned to the persons body " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Goodpasture Syndrome ? ### Response: - Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses involving the kidneys and lungs. Goodpasture syndrome includes all of the following conditions: - glomerulonephritis - the presence of anti-glomerular basement membrane (GBM) antibodies - bleeding in the lungs - Goodpasture syndrome is fatal unless quickly diagnosed and treated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: Interstitial cystitis*painful bladder syndrome (IC/PBS) is one of several conditions that causes bladder pain and a need to urinate frequently and urgently. Some doctors have started using the term bladder pain syndrome (BPS) to describe this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: Signs of bladder problems include - Urgency. The feeling that you need to go right now! Urgency is normal if you haven't been near a bathroom for a few hours or if you have been drinking a lot of fluids. But you may have a problem if you have strong urges before your bladder has had time to fill. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: Many different problems can cause urgency, frequency, and bladder pain. Just a few of them are - infections - bowel disorders - endometriosistissue that normally lines the womb that appears in other places outside of the womb - bladder cancer " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome? ? ### Response: Both men and women can get IC/PBS, though twice as many women are affected as men. It can occur at any age, but it is most common in middle age. People with IC/PBS rarely have bladder pain all the time. The pain usually comes and goes as the bladder fills and then empties. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: Finding the cause of bladder pain may require several tests. While tests may aid your doctor in making a diagnosis of IC/PBS, a careful review of your symptoms and a physical exam in the office are generally the most important parts of the evaluation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: No one treatment for IC/PBS has been found that works for everyone. Your doctor or nurse will work with you to find a treatment plan that meets your special needs. The plan may include diet and lifestyle changes, bladder retraining, activity and exercise, physical therapy, and various types of medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: - Bladder problems have many possible causes. - Your doctor will need to do tests to find the cause of your bladder problems. If all the test results are normal, you may have IC/PBS. - No one treatment option for IC/PBS works for everybody. - Treatments for IC/PBS may include changing your diet and exercising. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? ### Response: - Bladder problems have many possible causes. - Your doctor will need to do tests to find the cause of your bladder problems. If all the test results are normal, you may have IC/PBS. - No one treatment option for IC/PBS works for everybody. - Treatments for IC/PBS may include changing your diet and exercising. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hematuria (Blood in the Urine) ? ### Response: Most people with microscopic hematuria do not have symptoms. People with gross hematuria have urine that is pink, red, or cola-colored due to the presence of red blood cells (RBCs). Even a small amount of blood in the urine can cause urine to change color. In most cases, people with gross hematuria do not have other symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hematuria (Blood in the Urine) ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hematuria (Blood in the Urine) ? ### Response: Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include - cancer of the kidney or bladder - inflamm " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hematuria (Blood in the Urine)? ? ### Response: Almost anyone, including children and teens, can have hematuria. Factors that increase the chance a person will have hematuria include - a family history of kidney disease - an enlarged prostate, which typically occurs in men age 50 or old " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hematuria (Blood in the Urine) ? ### Response: Hematuria is diagnosed with urinalysis, which is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hematuria (Blood in the Urine) ? ### Response: Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hematuria (Blood in the Urine) ? ### Response: Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Erectile Dysfunction ? ### Response: Erectile dysfunction* is when you cannot get or keep an erection firm enough to have sex. You may have ED if you - can get an erection sometimes, though not every time - can get an erection, yet it does not last long enough for sex - are unable to get an erection at all " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for What I need to know about Erectile Dysfunction? ? ### Response: Erectile dysfunction affects men of all races and in all parts of the world. Men are more likely to have ED as they get older. For example, ED occurs in - about 12 percent of men younger than 60 - 22 percent of men age 60 to 69 - 30 perce " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Erectile Dysfunction ? ### Response: Having ED can cause you to feel depressed or anxious. ED may also cause low self-esteem. When you have ED, you may not have a satisfying sex life. You may not feel as close with your sexual partner, which may strain your relationship. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Erectile Dysfunction ? ### Response: To find the cause of your ED, your doctor may - take your medical and sexual history - ask you questions about your mental health - give you a physical exam - test your blood - give you a nighttime erection test - perform an injection test - perform a Doppler penile ultrasound " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Erectile Dysfunction ? ### Response: Your doctor can offer you a number of treatments for ED. For many men, the answer is as simple as taking a pill. Other men have to try two or three options before they find a treatment that works for them. Dont give up if the first treatment doesnt work. Finding the right treatment can take time. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about Erectile Dysfunction ? ### Response: You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED. Physical activity increases blood flow throughout your body, including your penis. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Erectile Dysfunction ? ### Response: To prevent ED, you should eat a healthy diet of whole-grain foods, fruits and vegetables, low-fat dairy foods, and lean meats. A diet that causes you to be overweight and have heart and blood vessel disease can also lead to ED. You should avoid foods high in fat and sodium, the main part of salt. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Celiac Disease ? ### Response: Celiac disease is an immune disorder in which people cannot tolerate gluten because it damages the inner lining of their small intestine and prevents it from absorbing nutrients. The small intestine is the tubeshaped organ between the stomach and large intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Celiac Disease ? ### Response: Researchers do not know the exact cause of celiac disease. Celiac disease sometimes runs in families. In 50 percent of people who have celiac disease, a family member, when screened, also has the disease.1 A person's chances of developing celiac disease increase when his or her genestraits passed from parent to childhave variants, or changes. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Celiac Disease ? ### Response: As many as one in 141 Americans has celiac disease, although most remain undiagnosed.2 Celiac disease affects children and adults in all parts of the world and is more common in Caucasians and females. Celiac disease is also more common among people with certain genetic diseases, including Down syndrome and Turner syndromea condition that affects girls' development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Celiac Disease ? ### Response: A person may experience digestive signs and symptoms, or symptoms in other parts of the body. Digestive signs and symptoms are more common in children and can include - abdominal bloating - chronic diarrhea - constipation - gas - pale, foul-smelling, or fatty stool - stomach pain - nausea - vomiting " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Celiac Disease ? ### Response: A health care provider diagnoses celiac disease with - a medical and family history - a physical exam - blood tests - an intestinal biopsy - a skin biopsy Medical and Family History Taking a medical and family history may help a health care provider diagnose celiac disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Celiac Disease ? ### Response: In some cases, a health care provider will order genetic blood tests to confirm or rule out a diagnosis of celiac disease. Most people with celiac disease have gene pairs that contain at least one of the human leukocyte antigen (HLA) gene variants.4 However, these variants are also common in people without celiac disease, so their presence alone cannot diagnose celiac disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Celiac Disease ? ### Response: Most people with celiac disease have a significant improvement in symptoms when they follow a gluten-free diet. Health care providers typically refer people to a dietitian who specializes in treating people with the disease. The dietitian will teach the person to avoid gluten while following a healthy and nutritious diet. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Celiac Disease ? ### Response: Eating, diet, and nutrition play a significant role in treating celiac disease. People with the disease should maintain a gluten-free diet by avoiding products that contain gluten. In other words, a person with celiac disease should not eat most grains, pasta, and cereal, and many processed foods. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Celiac Disease ? ### Response: - Celiac disease is an immune disorder in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients. - When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villithe tiny, fingerlike projections on the inner lining of the small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your nervous system healthy ? ### Response: Your nervous system carries signals between your brain and other parts of your body through your spinal cord. Nerves are bundles of special tissues that transmit these signals. The signals share information between your brain and body about how things feel. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prevent diabetes problems: Keep your nervous system healthy ? ### Response: Nerve damage symptoms depend on which nerves have damage. Some people have no symptoms or mild symptoms. Other people have painful and long-lasting symptoms. As most nerve damage develops over many years, a person may not notice mild cases for a long time. In some people, the onset of pain may be sudden and severe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your nervous system healthy ? ### Response: Peripheral Neuropathy Peripheral neuropathy is the most common type of diabetic neuropathy, and it affects the sensory nerves of your feet, legs, hands, and arms. These areas of your body may feel - numb - weak - cold - burning or tingling, like pins and needles " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prevent diabetes problems: Keep your nervous system healthy ? ### Response: The treatment for nerve damage from diabetes is based on your symptoms. No treatment can reverse nerve damage; however, it can help you feel better. Your doctor might suggest taking low doses of medicines that both treat other health problems and help the pain of neuropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Prevent diabetes problems: Keep your nervous system healthy ? ### Response: You can keep your nervous system healthy by taking these steps: - Eat healthy meals and follow the meal plan that you and your doctor or dietitian have worked out. - If you drink alcoholic beverages, limit your intake to no more than one drink per day for women and two drinks per day for men. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemochromatosis ? ### Response: Primary Hemochromatosis Inherited genetic defects cause primary hemochromatosis, and mutations in the HFE gene are associated with up to 90 percent of cases.1 The HFE gene helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemochromatosis ? ### Response: A person with hemochromatosis may notice one or more of the following symptoms: - joint pain - fatigue, or feeling tired - unexplained weight loss - abnormal bronze or gray skin color - abdominal pain - loss of sex drive " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Hemochromatosis ? ### Response: Without treatment, iron may build up in the organs and cause complications, including - cirrhosis, or scarring of liver tissue - diabetes - irregular heart rhythms or weakening of the heart muscle - arthritis - erectile dysfunction " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemochromatosis ? ### Response: Health care providers use medical and family history, a physical exam, and routine blood tests to diagnose hemochromatosis or other conditions that could cause the same symptoms or complications. - Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose hemochromatosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemochromatosis ? ### Response: Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy. Phlebotomy rids the body of extra iron. This treatment is simple, inexpensive, and safe. Based on the severity of the iron overload, a patient will have phlebotomy to remove a pint of blood once or twice a week for several months to a year, and occasionally longer. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hemochromatosis ? ### Response: Iron is an essential nutrient found in many foods. Healthy people usually absorb less than 10 percent of iron in the food they eat.6 People with hemochromatosis absorb up to 30 percent of that iron.6 People with hemochromatosis can help prevent iron overload by " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hemochromatosis ? ### Response: - Hemochromatosis is the most common form of iron overload disease. Too much iron in the body causes hemochromatosis. - Inherited genetic defects cause primary hemochromatosis. - Primary hemochromatosis mainly affects Caucasians of Northern European descent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adrenal Insufficiency and Addison's Disease ? ### Response: Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys. Adrenal insufficiency can be primary or secondary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adrenal Insufficiency and Addison's Disease ? ### Response: Adrenal Insufficiency The most common symptoms of adrenal insufficiency are - chronic, or long lasting, fatigue - muscle weakness - loss of appetite - weight loss - abdominal pain Other symptoms of adrenal insufficiency can include " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adrenal Insufficiency and Addison's Disease ? ### Response: People with adrenal insufficiency who have weakness, nausea, or vomiting need immediate emergency treatment to prevent an adrenal crisis and possible death. An injection with a synthetic glucocorticoid hormone called a corticosteroid can save a persons life. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adrenal Insufficiency and Addison's Disease ? ### Response: Autoimmune disorders cause most cases of Addisons disease. Infections and medications may also cause the disease. Autoimmune Disorders Up to 80 percent of Addisons disease cases are caused by an autoimmune disorder, which is when the bodys immune system attacks the bodys own cells and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adrenal Insufficiency and Addison's Disease ? ### Response: A lack of CRH or ACTH causes secondary adrenal insufficiency. The lack of these hormones in the body can be traced to several possible sources. Stoppage of Corticosteroid Medication A temporary form of secondary adrenal insufficiency may occur when a person who has been taking a synthetic glucocorticoid hormone, called a corticosteroid, for a long time stops taking the medication. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adrenal Insufficiency and Addison's Disease ? ### Response: In its early stages, adrenal insufficiency can be difficult to diagnose. A health care provider may suspect it after reviewing a persons medical history and symptoms. A diagnosis of adrenal insufficiency is confirmed through hormonal blood and urine tests. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adrenal Insufficiency and Addison's Disease ? ### Response: After Addisons disease is diagnosed, health care providers may use the following tests to look at the adrenal glands, find out whether the disease is related to TB, or identify antibodies associated with autoimmune Addisons disease. - Ultrasound of the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adrenal Insufficiency and Addison's Disease ? ### Response: Adrenal insufficiency is treated by replacing, or substituting, the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of the patient. Cortisol is replaced with a corticosteroid, such as hydrocortisone, prednisone, or dexamethasone, taken orally one to three times each day, depending on which medication is chosen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adrenal Insufficiency and Addison's Disease ? ### Response: Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Adrenal Insufficiency and Addison's Disease ? ### Response: The following steps can help a person prevent adrenal crisis: - Ask a health care provider about possibly having a shortage of adrenal hormones, if always feeling tired, weak, or losing weight. - Learn how to increase the dose of corticosteroid for adrenal insufficiency when ill. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Adrenal Insufficiency and Addison's Disease ? ### Response: Some people with Addisons disease who are aldosterone deficient can benefit from following a diet rich in sodium. A health care provider or a dietitian can give specific recommendations on appropriate sodium sources and daily sodium guidelines if necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Adrenal Insufficiency and Addison's Disease ? ### Response: - Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. - Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypothyroidism ? ### Response: Hypothyroidism is a disorder that occurs when the thyroid gland does not make enough thyroid hormone to meet the bodys needs. Thyroid hormone regulates metabolismthe way the body uses energyand affects nearly every organ in the body. Without enough thyroid hormone, many of the bodys functions slow down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypothyroidism ? ### Response: The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypothyroidism ? ### Response: Hypothyroidism has several causes, including - Hashimotos disease - thyroiditis, or inflammation of the thyroid - congenital hypothyroidism, or hypothyroidism that is present at birth - surgical removal of part or all of the thyroid - radiation treatment of the thyroid - some medications " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypothyroidism ? ### Response: Hypothyroidism has many symptoms that can vary from person to person. Some common symptoms of hypothyroidism are - fatigue - weight gain - a puffy face - cold intolerance - joint and muscle pain - constipation - dry skin - dry, thinning hair - decreased sweating - heavy or irregular menstrual periods and impaired fertility - depression - slowed heart rate " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypothyroidism ? ### Response: Many symptoms of hypothyroidism are the same as those of other diseases, so hypothyroidism usually cannot be diagnosed based on symptoms alone. With suspected hypothyroidism, health care providers take a medical history and perform a thorough physical examination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypothyroidism ? ### Response: Health care providers treat hypothyroidism with synthetic thyroxine, a medication that is identical to the hormone T4. The exact dose will depend on the patients age and weight, the severity of the hypothyroidism, the presence of other health problems, and whether the person is taking other drugs that might interfere with how well the body uses thyroid hormone. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hypothyroidism ? ### Response: Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition can be found on the National Agricultural Library website at www.nutrition.gov. Dietary Supplements Iodine is an essential mineral for the thyroid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Tract Infection In Adults ? ### Response: A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Tract Infection In Adults ? ### Response: The urinary tract is the body's drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Tract Infection In Adults ? ### Response: Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. Microbes called Chlamydia and Mycoplasma can infect the urethra and reproductive system but not the bladder. Chlamydia and Mycoplasma infections may be sexually transmitted and require treatment of sexual partners. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Urinary Tract Infection In Adults ? ### Response: Urinary tract infections are the second most common type of infection in the body, accounting for about 8.1 million visits to health care providers each year.1 Women are especially prone to UTIs for anatomical reasons. One factor is that a womans urethra is shorter, allowing bacteria quicker access to the bladder. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Urinary Tract Infection In Adults? ? ### Response: Although everyone has some risk, some people are more prone to getting UTIs than others. People with spinal cord injuries or other nerve damage around the bladder have difficulty emptying their bladder completely, allowing bacteria to grow in the urine that stays in the bladder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urinary Tract Infection In Adults ? ### Response: Symptoms of a UTI vary by age, gender, and whether a catheter is present. Among young women, UTI symptoms typically include a frequent and intense urge to urinate and a painful, burning feeling in the bladder or urethra during urination. The amount of urine may be very small. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Tract Infection In Adults ? ### Response: To find out whether a person has a UTI, the health care provider will ask about urinary symptoms and then test a sample of urine for the presence of bacteria and white blood cells, which are produced by the body to fight infection. Because bacteria can be found in the urine of healthy individuals, a UTI is diagnosed based both on symptoms and a laboratory test. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Tract Infection In Adults ? ### Response: Most UTIs are caused by bacteria, which are treated with bacteria-fighting medications called antibiotics or antimicrobials. The choice of medication and length of treatment depend on the patients history and the type of bacteria causing the infection. Some antibiotics may be ruled out if a person has allergies to them. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Tract Infection In Adults ? ### Response: Changing some daily habits may help a person prevent recurrent UTIs. Eating, Diet, and Nutrition Drinking lots of fluid can help flush bacteria from the system. Water is best. Most people should try for six to eight, 8-ounce glasses a day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diagnosis of Diabetes and Prediabetes ? ### Response: Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolismthe way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diagnosis of Diabetes and Prediabetes ? ### Response: Prediabetes is when blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes means a person is at increased risk for developing type 2 diabetes, as well as for heart disease and stroke. Many people with prediabetes develop type 2 diabetes within 10 years. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diagnosis of Diabetes and Prediabetes ? ### Response: Blood tests are used to diagnosis diabetes and prediabetes because early in the disease type 2 diabetes may have no symptoms. All diabetes blood tests involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diagnosis of Diabetes and Prediabetes ? ### Response: Health care providers test for gestational diabetes using the OGTT. Women may be tested during their first visit to the health care provider after becoming pregnant or between 24 to 28 weeks of pregnancy depending on their risk factors and symptoms. Women found to have diabetes at the first visit to the health care provider after becoming pregnant may be diagnosed with type 2 diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diagnosis of Diabetes and Prediabetes ? ### Response: A major research study, the Diabetes Prevention Program (DPP), proved that people with prediabetes were able to sharply reduce their risk of developing diabetes during the study by losing 5 to 7 percent of their body weight through dietary changes and increased physical activity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diagnosis of Diabetes and Prediabetes ? ### Response: People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics: - What I need to know about Diabetes Medicines - What I need to know about Eating and Diabetes - Your Guide to Diabetes: Type 1 and Type 2 " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diagnosis of Diabetes and Prediabetes ? ### Response: - Tests used for diagnosing diabetes and prediabetes include the A1C testfor type 2 diabetes and prediabetesthe fasting plasma glucose (FPG) test, and the oral glucose tolerance test (OGTT). Another blood test, the random plasma glucose (RPG) test, is sometimes used to diagnose diabetes when symptoms are present during a regular health checkup. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mntriers Disease ? ### Response: Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. In a normal stomach, mucous cells in the rugae release protein-containing mucus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mntriers Disease ? ### Response: Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. In extremely rare cases, siblings have developed Mntriers disease as children, suggesting a genetic link. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mntriers Disease ? ### Response: Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. In extremely rare cases, siblings have developed Mntriers disease as children, suggesting a genetic link. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mntriers Disease ? ### Response: Health care providers base the diagnosis of Mntriers disease on a combination of symptoms, lab findings, findings on upper gastrointestinal (GI) endoscopy, and stomach biopsy results. A health care provider will begin the diagnosis of Mntriers disease by taking a patients medical and family history and performing a physical exam. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mntriers Disease ? ### Response: Treatment may include medications, IV protein, blood transfusions, and surgery. Medications Health care providers may prescribe the anticancer medication cetuximab (Erbitux) to treat Mntriers disease. Studies have shown that cetuximab blocks the activity of epidermal growth factor receptor and can significantly improve a persons symptoms, as well as decrease the thickness of the stomach wall from the overgrowth of mucous cells. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Mntriers Disease ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Mntriers disease. In some cases, a health care provider may prescribe a high-protein diet to offset the loss of protein due to Mntriers disease. Some people with severe malnutrition may require IV nutrition, which is called total parenteral nutrition (TPN). " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Mntriers Disease ? ### Response: - Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. - Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inguinal Hernia ? ### Response: An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. The abdomen is the area between the chest and the hips. The area of the lower abdominal wall is also called the inguinal or groin region. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inguinal Hernia ? ### Response: The inguinal canal is a passage through the lower abdominal wall. People have two inguinal canalsone on each side of the lower abdomen. In males, the spermatic cords pass through the inguinal canals and connect to the testicles in the scrotumthe sac around the testicles. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Inguinal Hernia ? ### Response: The cause of inguinal hernias depends on the type of inguinal hernia. Indirect inguinal hernias. A defect in the abdominal wall that is present at birth causes an indirect inguinal hernia. During the development of the fetus in the womb, the lining of the abdominal cavity forms and extends into the inguinal canal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Inguinal Hernia ? ### Response: The first sign of an inguinal hernia is a small bulge on one or, rarely, on both sides of the grointhe area just above the groin crease between the lower abdomen and the thigh. The bulge may increase in size over time and usually disappears when lying down. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Inguinal Hernia ? ### Response: Inguinal hernias can cause the following complications: - Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Inguinal Hernia ? ### Response: A health care provider diagnoses an inguinal hernia with - a medical and family history - a physical exam - imaging tests, including x rays Medical and family history. Taking a medical and family history may help a health care provider diagnose an inguinal hernia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Inguinal Hernia ? ### Response: Repair of an inguinal hernia via surgery is the only treatment for inguinal hernias and can prevent incarceration and strangulation. Health care providers recommend surgery for most people with inguinal hernias and especially for people with hernias that cause symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Inguinal Hernia ? ### Response: People cannot prevent the weakness in the abdominal wall that causes indirect inguinal hernias. However, people may be able to prevent direct inguinal hernias by maintaining a healthy weight and not smoking. People can keep inguinal hernias from getting worse or keep inguinal hernias from recurring after surgery by " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Inguinal Hernia ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing inguinal hernias. A person with an inguinal hernia may be able to prevent symptoms by eating high-fiber foods. Fresh fruits, vegetables, and whole grains are high in fiber and may help prevent the constipation and straining that cause some of the painful symptoms of a hernia. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Inguinal Hernia ? ### Response: - An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. - A defect in the abdominal wall that is present at birth causes an indirect inguinal hernia. - Direct inguinal hernias usually occur only in male adults as aging and stress or strain weaken the abdominal muscles around the inguinal canal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians ? ### Response: Diabetes causes blood glucose levels to be above normal. People with diabetes have problems converting food to energy. After food is eaten, it is broken down into a sugar called glucose. Glucose is then carried by the blood to cells throughout the body. The hormone insulin, made in the pancreas, helps the body change blood glucose into energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians ? ### Response: Many people have no visible signs or symptoms of diabetes. Symptoms can also be so mild that you might not notice them. More than 5 million people in the United States have type 2 diabetes and do not know it. - increased thirst - increased " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians? ? ### Response: - My mother had diabetes when I was born. - I am overweight. - I have a parent, brother, or sister with diabetes. - My family background is American Indian. - I have had gestational diabetes, or I gave birth to at least one baby weighing more than 9 pounds. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians? ? ### Response: - Reach and maintain a reasonable body weight. - Make wise food choices most of the time. - Be physically active every day. - Take your prescribed medicines. Doing these things can reduce your risk of developing type 2 diabetes. Keeping your blood pressure and cholesterol on target also helps you stay healthy. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Treatment Methods for Kidney Failure: Hemodialysis ? ### Response: About once a month, your dialysis care team will test your blood by using one of two formulasURR or Kt/Vto see whether your treatments are removing enough wastes. Both tests look at one specific waste product, called blood urea nitrogen (BUN), as an indicator for the overall level of waste products in your system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Treatment Methods for Kidney Failure: Hemodialysis ? ### Response: Your kidneys do much more than remove wastes and extra fluid. They also make hormones and balance chemicals in your system. When your kidneys stop working, you may have problems with anemia and conditions that affect your bones, nerves, and skin. Some of the more common conditions caused by kidney failure are extreme tiredness, bone problems, joint problems, itching, and ""restless legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Insulin Resistance and Prediabetes ? ### Response: Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. Insulin plays a major role in metabolismthe way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Insulin Resistance and Prediabetes ? ### Response: Insulin resistance is a condition in which the body produces insulin but does not use it effectively. When people have insulin resistance, glucose builds up in the blood instead of being absorbed by the cells, leading to type 2 diabetes or prediabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Insulin Resistance and Prediabetes ? ### Response: Although the exact causes of insulin resistance are not completely understood, scientists think the major contributors to insulin resistance are excess weight and physical inactivity. Excess Weight Some experts believe obesity, especially excess fat around the waist, is a primary cause of insulin resistance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Insulin Resistance and Prediabetes ? ### Response: Prediabetes is a condition in which blood glucose or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is becoming more common in the United States. The U.S. Department of Health and Human Services estimates that at least 86 million U. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Insulin Resistance and Prediabetes ? ### Response: Insulin resistance and prediabetes usually have no symptoms. People may have one or both conditions for several years without knowing they have them. Even without symptoms, health care providers can identify people at high risk by their physical characteristics, also known as risk factors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Insulin Resistance and Prediabetes ? ### Response: Metabolic syndrome, also called insulin resistance syndrome, is a group of traits and medical conditions linked to overweight and obesity that puts people at risk for both CVD and type 2 diabetes. Metabolic syndrome is defined* as the presence of any three of the following2: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Insulin Resistance and Prediabetes ? ### Response: Health care providers use blood tests to determine whether a person has prediabetes, but they do not usually test specifically for insulin resistance. Insulin resistance can be assessed by measuring the level of insulin in the blood. However, the test that most accurately measures insulin resistance, called the euglycemic clamp, is too costly and complicated to be used in most health care providers' offices. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Insulin Resistance and Prediabetes ? ### Response: Adopting healthy eating habits can help people lose a modest amount of weight and reverse insulin resistance. Experts encourage people to slowly adopt healthy eating habits that they can maintain, rather than trying extreme weight-loss solutions. People may need to get help from a dietitian or join a weight-loss program for support. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Insulin Resistance and Prediabetes ? ### Response: - Insulin is a hormone that helps cells throughout the body absorb glucose and use it for energy. Insulin resistance is a condition in which the body produces insulin but does not use it effectively. - Insulin resistance increases the risk of developing type 2 diabetes and prediabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyloidosis and Kidney Disease ? ### Response: Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. Amyloid proteins are abnormal proteins that the body cannot break down and recycle, as it does with normal proteins. When amyloid proteins clump together, they form amyloid deposits. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyloidosis and Kidney Disease ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyloidosis and Kidney Disease ? ### Response: Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys. Primary Amyloidosis of the Kidneys The kidneys are the organs most commonly affected by primary amyloidosis. Amyloid deposits damage the kidneys and make it harder for them to filter wastes and break down proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyloidosis and Kidney Disease ? ### Response: The most common sign of primary amyloidosis of the kidneys is nephrotic syndromea collection of signs that indicate kidney damage. The signs of nephrotic syndrome include - albuminuriaan increased amount of albumin, a protein, in the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyloidosis and Kidney Disease ? ### Response: The symptoms of dialysis-related amyloidosis may include - pain, stiffness, and fluid in the joints. - abnormal, fluid-containing sacs, called cysts, in some bones. - carpal tunnel syndrome, caused by unusual buildup of amyloid proteins in the wrists. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amyloidosis and Kidney Disease ? ### Response: A health care provider diagnoses primary amyloidosis of the kidneys with - a medical and family history - a physical exam - urinalysis - blood tests - a kidney biopsy Medical and Family History Taking a medical and family history may help a health care provider diagnose amyloidosis of the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amyloidosis and Kidney Disease ? ### Response: A health care provider diagnoses dialysis-related amyloidosis with - urinalysis - blood tests - imaging tests A health care provider can use urinalysis and blood tests to detect the amount of amyloid proteins in urine and blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amyloidosis and Kidney Disease ? ### Response: A health care provider treats primary amyloidosis of the kidneys with the following: - medication therapy, including chemotherapy - a stem cell transplant - treating other conditions Medication therapy. The goal of medication therapy, including chemotherapy, is to reduce amyloid protein levels in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amyloidosis and Kidney Disease ? ### Response: A health care provider treats dialysis-related amyloidosis with - medication therapy - newer, more effective hemodialysis filters - surgery - a kidney transplant The goal of medication therapy and the use of newer, more effective hemodialysis filters is to reduce amyloid protein levels in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Amyloidosis and Kidney Disease ? ### Response: - Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. - Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys. - The most common sign of primary amyloidosis of the kidneys is nephrotic syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Living with Kidney Failure ? ### Response: Kidney failure means your kidneys no longer work well enough to do their job. You need treatment to replace the work your damaged kidneys have stopped doing. The treatments for kidney failure are - hemodialysis - peritoneal dialysis - a kidney transplant " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Living with Kidney Failure ? ### Response: Learning about different treatments for kidney failure will help you choose the one that best fits your lifestyle. Talk with your doctor and people on hemodialysis or peritoneal dialysis to learn about the pros and cons of each treatment. Ask your doctor about the transplant waiting list and about medicines required after a transplant. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Living with Kidney Failure ? ### Response: Eating the right foods can help you feel better when you are on dialysis or have a kidney transplant. Staying healthy with kidney failure requires watching how much of these elements are included in your diet: - Protein is in many foods you eat. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Living with Kidney Failure ? ### Response: - Kidney failure means your kidneys no longer work well enough to do their job. - Learning about treatments for kidney failure will help you choose the one that best fits your lifestyle. - Many people with kidney failure continue to work. - Physical activity is an important part of staying healthy when you have kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diverticular Disease ? ### Response: Diverticular disease is a condition that occurs when a person has problems from small pouches, or sacs, that have formed and pushed outward through weak spots in the colon wall. Each pouch is called a diverticulum. Multiple pouches are called diverticula. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diverticular Disease ? ### Response: When a person has diverticula that do not cause diverticulitis or diverticular bleeding, the condition is called diverticulosis. Most people with diverticulosis do not have symptoms. Some people with diverticulosis have constipation or diarrhea. People may also have chronic " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diverticular Disease ? ### Response: Scientists are not certain what causes diverticulosis and diverticular disease. For more than 50 years, the most widely accepted theory was that a low-fiber diet led to diverticulosis and diverticular disease. Diverticulosis and diverticular disease were first noticed in the United States in the early 1900s, around the time processed foods were introduced into the American diet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diverticular Disease ? ### Response: Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Diverticular Disease? ? ### Response: Diverticulosis becomes more common as people age, particularly in people older than age 50.3 Some people with diverticulosis develop diverticulitis, and the number of cases is increasing. Although diverticular disease is generally thought to be a condition found in older adults, it is becoming more common in people younger than age 50, most of whom are male. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diverticular Disease ? ### Response: People with diverticulitis may have many symptoms, the most common of which is pain in the lower left side of the abdomen. The pain is usually severe and comes on suddenly, though it can also be mild and then worsen over several days. The intensity of the pain can fluctuate. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diverticular Disease ? ### Response: Diverticulosis Health care providers often find diverticulosis during a routine x ray or a colonoscopy, a test used to look inside the rectum and entire colon to screen for colon cancer or polyps or to evaluate the source of rectal bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diverticular Disease ? ### Response: A health care provider may treat the symptoms of diverticulosis with a high-fiber diet or fiber supplements, medications, and possibly probiotics. Treatment for diverticular disease varies, depending on whether a person has diverticulitis or diverticular bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diverticular Disease ? ### Response: The Dietary Guidelines for Americans, 2010, recommends a dietary fiber intake of 14 grams per 1,000 calories consumed. For instance, for a 2,000-calorie diet, the fiber recommendation is 28 grams per day. The amount of fiber in a food is listed on the foods nutrition facts label. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diverticular Disease ? ### Response: - Diverticular disease is a condition that occurs when a person has problems from small pouches, or sacs, that have formed and pushed outward through weak spots in the colon wall. The problems that occur with diverticular disease include diverticulitis and diverticular bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intestinal Pseudo-obstruction ? ### Response: Intestinal pseudo-obstruction is a rare condition with symptoms that resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, when a health care provider examines the intestines, no blockage exists. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Intestinal Pseudo-obstruction ? ### Response: Problems with nerves, muscles, or interstitial cells of Cajal cause intestinal pseudo-obstruction. Interstitial cells of Cajal are called pacemaker cells because they set the pace of intestinal contractions. These cells convey messages from nerves to muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intestinal Pseudo-obstruction ? ### Response: Intestinal pseudo-obstruction symptoms may include - abdominal swelling or bloating, also called distension - abdominal pain - nausea - vomiting - constipation - diarrhea Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Intestinal Pseudo-obstruction ? ### Response: To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intestinal Pseudo-obstruction ? ### Response: A health care provider will treat intestinal pseudo-obstruction with nutritional support, medications, and, in some cases, decompression. Rarely, a person will need surgery. If an illness, a medication, or both cause intestinal pseudo-obstruction, a health care provider will treat the underlying illness, stop the medication, or do both. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Intestinal Pseudo-obstruction ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing intestinal pseudo-obstruction. Following special diets usually does not help improve the disorder. However, eating frequent, small meals with pureed foods or liquids may ease digestion. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Intestinal Pseudo-obstruction ? ### Response: - Intestinal pseudo-obstruction is a rare condition with symptoms that resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, when a health care provider examines the intestines, no blockage exists. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acromegaly ? ### Response: Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. The pituitary, a small gland in the brain, makes GH. In acromegaly, the pituitary produces excessive amounts of GH. Usually the excess GH comes from benign, or noncancerous, tumors on the pituitary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acromegaly ? ### Response: The name acromegaly comes from the Greek words for ""extremities"" and ""enlargement,"" reflecting one of its most common symptomsthe abnormal growth of the hands and feet. Swelling of the hands and feet is often an early feature, with patients noticing a change in ring or shoe size, particularly shoe width. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Acromegaly ? ### Response: Acromegaly is caused by prolonged overproduction of GH by the pituitary gland. The pituitary produces several important hormones that control body functions such as growth and development, reproduction, and metabolism. But hormones never seem to act simply and directly. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Acromegaly ? ### Response: Small pituitary adenomas are common, affecting about 17 percent of the population.1 However, research suggests most of these tumors do not cause symptoms and rarely produce excess GH.2 Scientists estimate that three to four out of every million people develop acromegaly each year and about 60 out of every million people suffer from the disease at any time. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Acromegaly ? ### Response: Blood tests If acromegaly is suspected, a doctor must measure the GH level in a persons blood to determine if it is elevated. However, a single measurement of an elevated blood GH level is not enough to diagnose acromegaly: Because GH is secreted by the pituitary in impulses, or spurts, its concentration in the blood can vary widely from minute to minute. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acromegaly ? ### Response: Currently, treatment options include surgical removal of the tumor, medical therapy, and radiation therapy of the pituitary. Goals of treatment are to - reduce excess hormone production to normal levels - relieve the pressure that the growing pituitary tumor may be exerting on the surrounding brain areas - preserve normal pituitary function or treat hormone deficiencies - improve the symptoms of acromegaly " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acromegaly ? ### Response: Currently, treatment options include surgical removal of the tumor, medical therapy, and radiation therapy of the pituitary. Goals of treatment are to - reduce excess hormone production to normal levels - relieve the pressure that the growing pituitary tumor may be exerting on the surrounding brain areas - preserve normal pituitary function or treat hormone deficiencies - improve the symptoms of acromegaly " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acromegaly ? ### Response: No single treatment is effective for all patients. Treatment should be individualized, and often combined, depending on patient characteristics such as age and tumor size. If the tumor has not yet invaded surrounding nonpituitary tissues, removal of the pituitary adenoma by an experienced neurosurgeon is usually the first choice. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Cirrhosis ? ### Response: Cirrhosis* is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue replaces healthy liver tissue and blocks the normal flow of blood through the liver. A healthy liver - makes proteins - helps fight infections - cleans the blood - helps digest food - stores a form of sugar that your body uses for energy " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Cirrhosis ? ### Response: You may have no symptoms in the early stages of cirrhosis. As cirrhosis gets worse you may - feel tired or weak - lose your appetite - feel sick to your stomach - lose weight - notice red, spider-shaped blood vessels under your skin " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Cirrhosis ? ### Response: Your doctor will examine you and may perform - blood tests to see whether your liver is working properly - imaging tests, which may show the size of your liver and show swelling or shrinkage - a liver biopsy, in which a doctor uses a ne " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Cirrhosis ? ### Response: Once you have cirrhosis, nothing can make all the scar tissue go away. But treating the cause will keep cirrhosis from getting worse. For example, if cirrhosis is from heavy alcohol use, the treatment is to completely stop drinking alcohol. If cirrhosis is caused by hepatitis C, then the hepatitis C virus is treated with medicine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Cirrhosis ? ### Response: If too much scar tissue forms, your liver could fail. Then you will need a liver transplant. A liver transplant can return you to good health. For information about liver transplantation, see the booklet What I need to know about Liver Transplantation from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about Cirrhosis ? ### Response: To prevent cirrhosis, - see your doctor for treatment of your liver disease. Many of the causes of cirrhosis are treatable. Early treatment may prevent cirrhosis. - try to keep your weight in the normal range. Being overweight can make several liver diseases worse. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Cirrhosis ? ### Response: - Cirrhosis is scarring of the liver. Scar tissue replaces healthy liver tissue. - Some common causes of cirrhosis include heavy alcohol use, hepatitis infections, and nonalcoholic fatty liver disease. - In the early stages of cirrhosis, you may have no symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ? ### Response: MODY is a monogenic form of diabetes that usually first occurs during adolescence or early adulthood. However, MODY sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of the pancreas to produce insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ? ### Response: Testing for monogenic diabetes involves providing a blood sample from which DNA is isolated. The DNA is analyzed for changes in the genes that cause monogenic diabetes. Abnormal results can determine the gene responsible for diabetes in a particular individual or show whether someone is likely to develop a monogenic form of diabetes in the future. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ? ### Response: - Mutations in single genes can cause rare forms of diabetes. - Genetic testing can identify many forms of monogenic diabetes. - A physician evaluates whether genetic testing is appropriate. - A correct diagnosis aided by genetic testing can lead to optimal treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallstones ? ### Response: Gallstones are hard particles that develop in the gallbladder. The gallbladder is a small, pear-shaped organ located in the upper right abdomenthe area between the chest and hipsbelow the liver. Gallstones can range in size from a grain of sand to a golf ball. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallstones ? ### Response: The biliary tract consists of the gallbladder and the bile ducts. The bile ducts carry bile and other digestive enzymes from the liver and pancreas to the duodenumthe fi rst part of the small intestine. The liver produces bilea fl uid that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gallstones ? ### Response: Imbalances in the substances that make up bile cause gallstones. Gallstones may form if bile contains too much cholesterol, too much bilirubin, or not enough bile salts. Scientists do not fully understand why these imbalances occur. Gallstones also may form if the gallbladder does not empty completely or often enough. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gallstones? ? ### Response: Certain people have a higher risk of developing gallstones than others:2 - Women are more likely to develop gallstones than men. Extra estrogen can increase cholesterol levels in bile and decrease gallbladder contractions, which may cause gallstones to form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gallstones ? ### Response: Many people with gallstones do not have symptoms. Gallstones that do not cause symptoms are called asymptomatic, or silent, gallstones. Silent gallstones do not interfere with the function of the gallbladder, liver, or pancreas. If gallstones block the bile ducts, pressure increases in the gallbladder, causing a gallbladder attack. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallstones ? ### Response: People who think they have had a gallbladder attack should notify their health care provider. Although these attacks usually resolve as gallstones move, complications can develop if the bile ducts remain blocked. People with any of the following symptoms during or after a gallbladder attack should see a health care provider immediately: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gallstones ? ### Response: A health care provider will usually order an ultrasound exam to diagnose gallstones. Other imaging tests may also be used. - Ultrasound exam. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gallstones ? ### Response: If gallstones are not causing symptoms, treatment is usually not needed. However, if a person has a gallbladder attack or other symptoms, a health care provider will usually recommend treatment. A person may be referred to a gastroenterologista doctor who specializes in digestive diseasesfor treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gallstones ? ### Response: Factors related to eating, diet, and nutrition that increase the risk of gallstones include - obesity - rapid weight loss - diets high in calories and refi ned carbohydrates and low in fi ber People can decrease their risk of gallstones by maintaining a healthy weight through proper diet and nutrition. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gallstones ? ### Response: - Gallstones are hard particles that develop in the gallbladder. - Imbalances in the substances that make up bile cause gallstones. Gallstones may form if bile contains too much cholesterol, too much bilirubin, or not enough bile salts. Scientists do not fully understand why these imbalances occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: Microscopic colitis is an inflammation of the colon that a health care provider can see only with a microscope. Inflammation is the bodys normal response to injury, irritation, or infection of tissues. Microscopic colitis is a type of inflammatory bowel diseasethe general name for diseases that cause irritation and inflammation in the intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: The colon is part of the gastrointestinal (GI) tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. Organs that make up the GI tract are the - mouth - esophagus - stomach - small intestine - large intestine - anus " "Below is an instruction from Human. Write a response. ### Instruction: What causes Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: The exact cause of microscopic colitis is unknown. Several factors may play a role in causing microscopic colitis. However, most scientists believe that microscopic colitis results from an abnormal immune-system response to bacteria that normally live in the colon. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea. Episodes of diarrhea can last for weeks, months, or even years. However, many people with microscopic colitis may have long periods without diarrhea. Other signs and symptoms of microscopic colitis can include " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: A pathologista doctor who specializes in examining tissues to diagnose diseasesdiagnoses microscopic colitis based on the findings of multiple biopsies taken throughout the colon. Biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: Treatment depends on the severity of symptoms. The gastroenterologist will - review the medications the person is taking - make recommendations to change or stop certain medications - recommend that the person quit smoking " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: To help reduce symptoms, a health care provider may recommend the following dietary changes: - avoid foods and drinks that contain caffeine or artificial sugars - drink plenty of liquids to prevent dehydration during episodes of diarrhea - eat a milk-free diet if the person is also lactose intolerant - eat a gluten-free diet " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: To help reduce symptoms, a health care provider may recommend the following dietary changes: - avoid foods and drinks that contain caffeine or artificial sugars - drink plenty of liquids to prevent dehydration during episodes of diarrhea - eat a milk-free diet if the person is also lactose intolerant - eat a gluten-free diet " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: To help reduce symptoms, a health care provider may recommend the following dietary changes: - avoid foods and drinks that contain caffeine or artificial sugars - drink plenty of liquids to prevent dehydration during episodes of diarrhea - eat a milk-free diet if the person is also lactose intolerant - eat a gluten-free diet " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Response: - Microscopic colitis is an inflammation of the colon that a health care provider can see only with a microscope. - The two types of microscopic colitis are collagenous colitis and lymphocytic colitis. - The exact cause of microscopic colitis is unknown. - Microscopic colitis is most common in females age 50 years or older. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fecal Incontinence ? ### Response: Fecal incontinence, also called a bowel control problem, is the accidental passing of solid or liquid stool or mucus from the rectum. Fecal incontinence includes the inability to hold a bowel movement until reaching a toilet as well as passing stool into ones underwear without being aware of it happening. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Fecal Incontinence? ? ### Response: Nearly 18 million U.S. adultsabout one in 12have fecal incontinence.1 People of any age can have a bowel control problem, though fecal incontinence is more common in older adults. Fecal incontinence is slightly more common among women. Having any of the following can increase the risk: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fecal Incontinence ? ### Response: The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fecal Incontinence ? ### Response: Fecal incontinence has many causes, including - diarrhea - constipation - muscle damage or weakness - nerve damage - loss of stretch in the rectum - childbirth by vaginal delivery - hemorrhoids and rectal prolapse - rectocele - inactivity " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fecal Incontinence ? ### Response: Health care providers diagnose fecal incontinence based on a persons medical history, physical exam, and medical test results. In addition to a general medical history, the health care provider may ask the following questions: - When did fecal incontinence start? - How often does fecal incontinence occur? - How much stool leaks? Does the stool just streak the underwear? Does just a little bit of solid or liquid stool leak out or does complete loss of bowel control occur? - Does fecal incontinence involve a strong urge to have a bowel movement or does it happen without warning? - For people with hemorrhoids, do hemorrhoids bulge through the anus? Do the hemorrhoids pull back in by themselves, or do they have to be pushed in with a finger? - How does fecal incontinence affect daily life? - Is fecal incontinence worse after eating? Do certain foods seem to make fecal incontinence worse? - Can passing gas be controlled? " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Fecal Incontinence ? ### Response: Dietary changes that may improve fecal incontinence include - Eating the right amount of fiber. Fiber can help with diarrhea and constipation. Fiber is found in fruits, vegetables, whole grains, and beans. Fiber supplements sold in a pharmacy or in a health food store are another common source of fiber to treat fecal incontinence. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fecal Incontinence ? ### Response: Fecal incontinence can cause embarrassment, fear, and loneliness. Taking steps to cope is important. The following tips can help: - carrying a bag with cleanup supplies and a change of clothes when leaving the house. - finding public restrooms before one is needed. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Fecal Incontinence ? ### Response: - Fecal incontinence, also called a bowel control problem, is the accidental passing of solid or liquid stool or mucus from the rectum. Fecal incontinence includes the inability to hold a bowel movement until reaching a toilet as well as passing stool into ones underwear without being aware of it happening. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Diverticular Disease ? ### Response: Diverticular* disease affects the colon. The colon is part of the large intestine that removes waste from your body. Diverticular disease is made up of two conditions: diverticulosis and diverticulitis. Diverticulosis occurs when pouches, called diverticula, form in the colon. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Diverticular Disease ? ### Response: Doctors are not sure what causes diverticular disease. Many think a diet low in fiber is the main cause. Fiber is a part of food that your body cannot digest. It is found in many fruits and vegetables. Fiber stays in the colon and absorbs water, which makes bowel movements easier to pass. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Diverticular Disease ? ### Response: The symptoms for diverticulosis and diverticulitis are different. Diverticulosis. Many people don't have symptoms, but some people have cramping, bloating, and constipation. Some people also have bleeding, inflammation, and fistulas. If you are bleeding, bright red blood will pass through your rectum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Diverticular Disease ? ### Response: The symptoms for diverticulosis and diverticulitis are different. Diverticulosis. Many people don't have symptoms, but some people have cramping, bloating, and constipation. Some people also have bleeding, inflammation, and fistulas. If you are bleeding, bright red blood will pass through your rectum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Diverticular Disease ? ### Response: Treatment for diverticular disease depends on how serious the problem is and whether you are suffering from diverticulosis or diverticulitis. Most people get better by changing their diet. If you have rectal bleeding, you need to go to the hospital so a doctor can find the part of your colon that is bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Diverticular Disease ? ### Response: Treatment for diverticular disease depends on how serious the problem is and whether you are suffering from diverticulosis or diverticulitis. Most people get better by changing their diet. If you have rectal bleeding, you need to go to the hospital so a doctor can find the part of your colon that is bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Diverticular Disease ? ### Response: A doctor may prescribe antibiotics and recommend following a liquid diet. Most people get better with this treatment. Some people may need surgery and other treatments. - Surgery. Serious problems from diverticulitis are treated with surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Diverticular Disease ? ### Response: Eat a high-fiber diet to help prevent problems. Talk to your doctor about using fiber products like Benefiber, Citrucel, or Metamucil. Daily use can help you get the fiber you need if you do not get it through your diet. Ask your doctor about which food choices are right for you. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Diverticular Disease ? ### Response: - Diverticular disease is more common in people as they grow older. - A low-fiber diet is the most likely cause of the disease. - Most people are treated with a high-fiber diet and pain medication. - Add whole grain foods, high-fiber fruits, and vegetables to your diet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: If you have advanced chronic kidney disease (CKD), you may soon need treatment to do the work your kidneys can no longer do. Learning about your treatment options for kidney failure will help you make the best choice for you. Each treatment has pros and cons. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: Chronic kidney disease means you have damaged kidneys that cannot filter blood normally. Wastes then build up in your blood, harming your body. Kidney disease usually does not get better and may lead to kidney failure. If your kidneys fail, current treatment options can help you live a longer, healthier life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. None of these treatments helps the kidneys get better. However, they all can help you feel better. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: Purpose of Hemodialysis The purpose of hemodialysis is to filter your blood. This type of dialysis uses a machine to remove harmful wastes and extra fluid, as your kidneys did when they were healthy. Hemodialysis helps control blood pressure and balance important minerals, such as potassium, sodium, calcium, and bicarbonate, in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: Purpose of Peritoneal Dialysis The purpose of peritoneal dialysis is to filter wastes and extra fluid from your body. This type of dialysis uses the lining of your bellythe space in your body that holds your stomach, bowels, and liverto filter your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: What should I know about kidney transplantation? The purpose of kidney transplantation is to surgically place a healthy kidney from a donora person who has just died or a living person, most often a family memberinto your body. A kidney from someone who has just died is a deceased donor kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: Conservative management for kidney failure is the choice to say no to or stop dialysis treatments. For many people, dialysis not only extends life, it also improves the quality of life. For others who have serious conditions in addition to kidney failure, dialysis may seem like a burden that only prolongs suffering. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: All of the treatment options for kidney failure require changes and restrictions in your diet. Hemodialysis Hemodialysis has the most restrictions. You should watch how much water and other liquids you get from food and drinks and avoid getting too much sodium, often from salt; potassium; and phosphorus. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Failure: Choosing a Treatment That's Right for You ? ### Response: - You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. - Hemodialysis - Peritoneal dialysis - Kidney transplantation - Conservative management - None of these treatments helps the kidneys get better. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hirschsprung Disease ? ### Response: Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hirschsprung Disease ? ### Response: The large intestine, which includes the colon and rectum, is the last part of the digestive tract. The large intestines main job is to absorb water and hold stool. The rectum connects the colon to the anus. Stool passes out of the body through the anus. At birth, the large intestine is about 2 feet long. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Hirschsprung Disease ? ### Response: People with HD have constipation because they lack nerve cells in a part or all of the large intestine. The nerve cells signal muscles in the large intestine to push stool toward the anus. Without a signal to push stool along, stool will remain in the large intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Hirschsprung Disease ? ### Response: Before birth, a childs nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Hirschsprung Disease ? ### Response: The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Hirschsprung Disease ? ### Response: HD is diagnosed based on symptoms and test results. A doctor will perform a physical exam and ask questions about your childs bowel movements. HD is much less likely if parents can identify a time when their childs bowel habits were normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hirschsprung Disease ? ### Response: Pull-through Procedure HD is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Hirschsprung Disease ? ### Response: - Hirschsprung disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. People with HD are born with it. - The large intestine, which includes the colon and rectum, is the last part of the digestive tract. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Physical Activity and Diabetes ? ### Response: - Starting a physical activity program can help you lose weight or keep a healthy weight and keep your blood glucose levels on target. - Always talk with your health care team before you start a new physical activity program. - Ask your health care team if you need to change the amount of medicine you take or the food you eat before any physical activity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperthyroidism ? ### Response: Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. Hyperthyroidism is sometimes called thyrotoxicosis, the technical term for too much thyroid hormone in the blood. Thyroid hormones circulate throughout the body in the bloodstream and act on virtually every tissue and cell in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperthyroidism ? ### Response: The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hyperthyroidism ? ### Response: Hyperthyroidism has several causes, including - Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperthyroidism ? ### Response: Hyperthyroidism has many symptoms that can vary from person to person. Some common symptoms of hyperthyroidism are - nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hyperthyroidism ? ### Response: Many symptoms of hyperthyroidism are the same as those of other diseases, so hyperthyroidism usually cannot be diagnosed based on symptoms alone. With suspected hyperthyroidism, health care providers take a medical history and perform a thorough physical exam. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hyperthyroidism ? ### Response: Health care providers treat hyperthyroidism with medications, radioiodine therapy, or thyroid surgery. The aim of treatment is to bring thyroid hormone levels to a normal state, thus preventing long-term complications, and to relieve uncomfortable symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hyperthyroidism ? ### Response: Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library at www.nutrition.gov. Dietary Supplements Iodine is an essential mineral for the thyroid. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hyperthyroidism ? ### Response: - Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. - Hyperthyroidism is most often caused by Graves disease, an autoimmune disorder. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and overmedicating with synthetic thyroid hormone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic Kidney Disease ? ### Response: Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function over time. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Polycystic Kidney Disease ? ### Response: A gene mutation, or defect, causes polycystic kidney disease. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the deoxyribonucleic acid (DNA) sequence that makes up a gene. In most cases of PKD, a person inherits the gene mutation, meaning a parent passes it on in his or her genes. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Polycystic Kidney Disease ? ### Response: Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic Kidney Disease ? ### Response: Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic Kidney Disease ? ### Response: In many cases, PKD does not cause signs or symptoms until cysts are half an inch or larger. When present, the most common symptoms are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Polycystic Kidney Disease ? ### Response: The complications of autosomal dominant PKD include the following: - Pain. Cyst infection, other types of urinary tract infections (UTIs), bleeding into cysts, kidney stones, or stretching of the fibrous tissue around the kidney because of cyst growth can cause pain in the area of the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic Kidney Disease ? ### Response: Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. The signs of autosomal recessive PKD frequently appear in the earliest months of life, even in the womb, so health care providers often call it infantile PKD. In an autosomal recessive disorder, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic Kidney Disease ? ### Response: An early sign of autosomal recessive PKD is an enlarged kidney, seen in a fetus or an infant using ultrasound. Kidney function is crucial for early physical development, so children with autosomal recessive PKD and decreased kidney function are usually smaller-than-average size, a condition called growth failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Polycystic Kidney Disease ? ### Response: Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Polycystic Kidney Disease ? ### Response: Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. People with PKD should be physically active 30 minutes a day most days of the week. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Polycystic Kidney Disease ? ### Response: A dietitian specializes in helping people who have kidney disease choose the right foods and plan healthy meals. People with any kind of kidney disease, including PKD, should talk with a dietitian about foods that should be added to their diet and foods that might be harmful. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Polycystic Kidney Disease ? ### Response: - Polycystic kidney disease (PKD) is a genetic disorder that causes numerous cysts to grow in the kidneys. - A gene mutation, or defect, causes polycystic kidney disease. - Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A health care provider may refer a patient to a registered dietitian to help with the patient's food plan. Many insurance policies cover MNT when recommended by a health care provider. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: As CKD progresses, people often lose their appetites because they find that foods do not taste the same. As a result, they consume fewer caloriesimportant units of energy in foodand may lose too much weight. Renal dietitians can help people with advanced CKD find healthy ways to add calories to their diet if they are losing too much weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: Protein is an essential part of any diet. Proteins help build and maintain muscle, bone, skin, connective tissue, internal organs, and blood. They help fight disease and heal wounds. But proteins also break down into waste products that must be removed from the blood by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute. A 3-ounce serving of meat is about the size of a deck of cards or the palm of a persons hand. A renal dietitian can help people learn about the amount and sources of protein in their diet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: Everyone should know about fat sources because eating the wrong kinds of fat and too much fat increases the risk of clogged blood vessels and heart problems. Fat provides energy, helps produce hormonelike substances that regulate blood pressure and other heart functions, and carries fat-soluble vitamins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: Too much sodium in a person's diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies. The extra fluid raises blood pressure and puts a strain on the heart and kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: Keeping the proper level of potassium in the blood is essential. Potassium keeps the heart beating regularly and muscles working right. Problems can occur when blood potassium levels are either too low or too high. Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: Damaged kidneys allow phosphorus, a mineral found in many foods, to build up in the blood. Too much phosphorus in the blood pulls calcium from the bones, making the bones weak and likely to break. Too much phosphorus may also make skin itch. Foods such as milk and cheese, dried beans, peas, colas, canned iced teas and lemonade, nuts, and peanut butter are high in phosphorus. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: - A person may prevent or delay some health problems from chronic kidney disease (CKD) by eating the right foods and avoiding foods high in sodium, potassium, and phosphorus. - The kidneys remove wastes and extra water from the blood and make urine. - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? ### Response: The NIDDK Nutrition for Chronic Kidney Disease Series includes three fact sheets: - Nutrition for Early Chronic Kidney Disease in Adults - Nutrition for Advanced Chronic Kidney Disease in Adults - Nutrition for Chronic Kidney Disease in C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Causes of Diabetes ? ### Response: Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolismthe way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Insulin Resistance and Beta Cell Dysfunction Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Causes of Diabetes ? ### Response: - Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Nephrotic Syndrome ? ### Response: Childhood nephrotic syndrome is not a disease in itself; rather, it is a group of symptoms that - indicate kidney damageparticularly damage to the glomeruli, the tiny units within the kidney where blood is filtered - result in the release of too much protein from the body into the urine " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Nephrotic Syndrome ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Childhood Nephrotic Syndrome ? ### Response: While idiopathic, or unknown, diseases are the most common cause of primary childhood nephrotic syndrome, researchers have linked certain diseases and some specific genetic changes that damage the kidneys with primary childhood nephrotic syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Nephrotic Syndrome ? ### Response: The signs and symptoms of childhood nephrotic syndrome may include - edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face - albuminuriawhen a childs urine has high levels of albumin - hypoalbuminemiawhen a childs blood has low levels of albumin - hyperlipidemiawhen a childs blood cholesterol and fat levels are higher than normal " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Childhood Nephrotic Syndrome ? ### Response: The complications of childhood nephrotic syndrome may include - infection. When the kidneys are damaged, a child is more likely to develop infections because the body loses proteins that normally protect against infection. Health care providers will prescribe medications to treat infections. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Nephrotic Syndrome ? ### Response: A health care provider diagnoses childhood nephrotic syndrome with - a medical and family history - a physical exam - urine tests - a blood test - ultrasound of the kidney - kidney biopsy Medical and Family History " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Nephrotic Syndrome ? ### Response: Health care providers will decide how to treat childhood nephrotic syndrome based on the type: - primary childhood nephrotic syndrome: medications - secondary childhood nephrotic syndrome: treat the underlying illness or disease - congenital nephrotic syndrome: medications, surgery to remove one or both kidneys, and transplantation " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Nephrotic Syndrome ? ### Response: Health care providers will decide how to treat childhood nephrotic syndrome based on the type: - primary childhood nephrotic syndrome: medications - secondary childhood nephrotic syndrome: treat the underlying illness or disease - congenital nephrotic syndrome: medications, surgery to remove one or both kidneys, and transplantation " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Childhood Nephrotic Syndrome ? ### Response: Children who have nephrotic syndrome may need to make changes to their diet, such as - limiting the amount of sodium, often from salt, they take in each day - reducing the amount of liquids they drink each day - eating a diet low in saturated fat and cholesterol to help control elevated cholesterol levels " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Tubular Acidosis ? ### Response: Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Tubular Acidosis ? ### Response: Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Renal Tubular Acidosis ? ### Response: To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Renal Tubular Acidosis ? ### Response: To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Tubular Acidosis ? ### Response: Type 1: Classical Distal RTA Type 1 is also called classical distal RTA. ""Distal,"" which means distant, refers to the point in the urine-forming tube of the kidney where the defect occursrelatively distant from the point where fluid from the blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Tubular Acidosis ? ### Response: Type 1: Classical Distal RTA Type 1 is also called classical distal RTA. ""Distal,"" which means distant, refers to the point in the urine-forming tube of the kidney where the defect occursrelatively distant from the point where fluid from the blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Renal Tubular Acidosis ? ### Response: - Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Renal Tubular Acidosis ? ### Response: - Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your diabetes under control ? ### Response: Diabetes problems are health problems that can happen when you have diabetes. If your diabetes is not under control, you will have too much glucose*, also called sugar, in your blood. Having too much glucose in your blood for a long time can affect many important parts of your body, such as your " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your diabetes under control ? ### Response: The A1C test, also called the hemoglobin A1C test, HbA1C, or glycohemoglobin test, is a blood test that reflects the average level of glucose in your blood during the past 3 months. Your A1C test result is given in percents. Your doctor might use the A1C test to help diagnose your diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Prevent diabetes problems: Keep your diabetes under control ? ### Response: Following a healthy eating plan is a key step in living with diabetes and preventing diabetes problems. Your health care team will help you make a healthy eating plan. More information is provided in the NIDDK health topic, What I need to know about Eating and Diabetes or call 18008608747. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Prevent diabetes problems: Keep your diabetes under control ? ### Response: You can take steps each day to prevent diabetes problems. Steps Healthy Eating - Follow the healthy eating plan that you and your doctor or dietitian have made. - Learn what to eat to keep your blood glucose levels under control. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prevent diabetes problems: Keep your diabetes under control ? ### Response: This chart lists important tests, exams, and vaccines to get at least once or twice a year. Tests, Exams, and Vaccines to Get at Least Once or Twice a Year Make Sure to A1C test - Have this blood test at least twice a year. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatitis B: What Asian and Pacific Islander Americans Need to Know ? ### Response: Hepatitis B may start as a brief, flu-like illness. Most healthy adults and children older than 5 completely recover after the bodys immune system gets rid of the virus. Hepatitis B becomes chronic when the bodys immune system cant get rid of the virus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hepatitis B: What Asian and Pacific Islander Americans Need to Know ? ### Response: Hepatitis B is called a silent killer because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hepatitis B: What Asian and Pacific Islander Americans Need to Know? ? ### Response: Anyone can get hepatitis B, but some people are at higher risk, including - people who were born to a mother with hepatitis B - people who have close household contact with someone infected with the hepatitis B virus - people who have liv " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acquired Cystic Kidney Disease ? ### Response: Acquired cystic kidney disease happens when a person's kidneys develop fluid-filled sacs, called cysts, over time. Acquired cystic kidney disease is not the same as polycystic kidney disease (PKD), another disease that causes the kidneys to develop multiple cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acquired Cystic Kidney Disease ? ### Response: Acquired cystic kidney disease differs from PKD in several ways. Unlike acquired cystic kidney disease, PKD is a genetic, or inherited, disorder that can cause complications such as high blood pressure and problems with blood vessels in the brain and heart. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Acquired Cystic Kidney Disease ? ### Response: Acquired cystic kidney disease becomes more common the longer a person has CKD. - About 7 to 22 percent of people with CKD already have acquired cystic kidney disease before starting dialysis treatments. - Almost 60 percent of people on dialysis for 2 to 4 years develop acquired cystic kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Acquired Cystic Kidney Disease ? ### Response: Researchers do not fully understand what causes cysts to grow in the kidneys of people with CKD. The fact that these cysts occur only in the kidneys and not in other parts of the body, as in PKD, indicates that the processes that lead to cyst formation take place primarily inside the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Acquired Cystic Kidney Disease ? ### Response: Researchers do not fully understand what causes cysts to grow in the kidneys of people with CKD. The fact that these cysts occur only in the kidneys and not in other parts of the body, as in PKD, indicates that the processes that lead to cyst formation take place primarily inside the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Acquired Cystic Kidney Disease ? ### Response: People with acquired cystic kidney disease may develop the following complications: - an infected cyst, which can cause fever and back pain. - blood in the urine, which can signal that a cyst in the kidney is bleeding. - tumors in the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Acquired Cystic Kidney Disease ? ### Response: A health care provider may diagnose a person with acquired cystic kidney disease based on - medical history - imaging tests Medical History Taking a medical history may help a health care provider diagnose acquired cystic kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acquired Cystic Kidney Disease ? ### Response: If acquired cystic kidney disease is not causing complications, a person does not need treatment. A health care provider will treat infections with antibioticsmedications that kill bacteria. If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Acquired Cystic Kidney Disease ? ### Response: No specific diet will prevent or delay acquired cystic kidney disease. In general, a diet designed for people on hemodialysis or peritoneal dialysis reduces the amount of wastes that accumulate in the body between dialysis sessions. More information is provided in the NIDDK health topics, Eat Right to Feel Right on Hemodialysis and Nutrition for Advanced Chronic Kidney Disease in Adults. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. Benign prostatic hyperplasia is also called benign prostatic hypertrophy or benign prostatic obstruction. The prostate goes through two main growth periods as a man ages. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: The prostate is a walnut-shaped gland that is part of the male reproductive system. The main function of the prostate is to make a fluid that goes into semen. Prostate fluid is essential for a mans fertility. The gland surrounds the urethra at the neck of the bladder. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men. Benign prostatic hyperplasia does not develop in men whose testicles were removed before puberty. For this reason, some researchers believe factors related to aging and the testicles may cause benign prostatic hyperplasia. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: Benign prostatic hyperplasia is the most common prostate problem for men older than age 50. In 2010, as many as 14 million men in the United States had lower urinary tract symptoms suggestive of benign prostatic hyperplasia.1 Although benign prostatic hyperplasia rarely causes symptoms before age 40, the occurrence and symptoms increase with age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: The complications of benign prostatic hyperplasia may include - acute urinary retention - chronic, or long lasting, urinary retention - blood in the urine - urinary tract infections (UTIs) - bladder damage - kidney damage - bladder stones " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: A health care provider diagnoses benign prostatic hyperplasia based on - a personal and family medical history - a physical exam - medical tests Personal and Family Medical History Taking a personal and family medical history is one of the first things a health care provider may do to help diagnose benign prostatic hyperplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: Treatment options for benign prostatic hyperplasia may include - lifestyle changes - medications - minimally invasive procedures - surgery A health care provider treats benign prostatic hyperplasia based on the severity of symptoms, how much the symptoms affect a mans daily life, and a mans preferences. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: The complications of benign prostatic hyperplasia treatment depend on the type of treatment. Medications Medications used to treat benign prostatic hyperplasia may have side effects that sometimes can be serious. Men who are prescribed medications to treat benign prostatic hyperplasia should discuss possible side effects with a health care provider before taking the medications. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: Researchers have not found a way to prevent benign prostatic hyperplasia. Men with risk factors for benign prostatic hyperplasia should talk with a health care provider about any lower urinary tract symptoms and the need for regular prostate exams. Men can get early treatment and minimize benign prostatic hyperplasia effects by recognizing lower urinary tract symptoms and identifying an enlarged prostate. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia. However, a health care provider can give information about how changes in eating, diet, or nutrition could help with treatment. Men should talk with a health care provider or dietitian about what diet is right for them. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ? ### Response: - Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. - The prostate is a walnut-shaped gland that is part of the male reproductive system. - The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about My Child's Urinary Tract Infection ? ### Response: A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscope. Bacteria * are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are quickly removed by the body before they cause symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for What I need to know about My Child's Urinary Tract Infection? ? ### Response: Any child can get a UTI, though girls get UTIs more often than boys. Children with a condition called vesicoureteral reflux (VUR) are at higher risk for UTIs. VUR causes urine to reflux at the point where one or both ureters attach to the bladder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about My Child's Urinary Tract Infection ? ### Response: A child with a UTI may not have any symptoms. When symptoms are present, they can range from mild to severe. UTI symptoms can include - fever - pain or burning during urination with only a few drops of urine at a time - irritability - no " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about My Child's Urinary Tract Infection ? ### Response: A UTI is diagnosed by testing a sample of your childs urine. The way the urine is collected depends on your childs age: The health care provider looks at the urine sample with a microscope to check for bacteria or pus. The sample is also sent to a lab. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about My Child's Urinary Tract Infection ? ### Response: Bacteria-fighting medicines called antibiotics are used to treat a UTI. While the lab is doing the urine culture, the health care provider may begin treatment with an antibiotic that treats the bacteria most likely to be causing the infection. Once culture results are known, the health care provider may switch your child to a different antibiotic that targets the specific type of bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about My Child's Urinary Tract Infection ? ### Response: Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for VUR or a blockage in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of infection. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about My Child's Urinary Tract Infection ? ### Response: You can take the following steps to help prevent your child from getting a UTI: - Teach your child not to hold in urine and to go to the bathroom whenever your child feels the urge. - Teach your child how to properly clean himself or herself after using the bathroom to keep bacteria from entering the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about My Child's Urinary Tract Infection ? ### Response: You can take the following steps to help prevent your child from getting a UTI: - Teach your child not to hold in urine and to go to the bathroom whenever your child feels the urge. - Teach your child how to properly clean himself or herself after using the bathroom to keep bacteria from entering the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about My Child's Urinary Tract Infection ? ### Response: - A urinary tract infection (UTI) is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscope. - Most UTIs are caused by bacteria that live in the bowel, the part of the digestive tract where stool is changed from liquid to solid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Biliary Cirrhosis ? ### Response: Primary biliary cirrhosis is a chronic, or long lasting, disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear. The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Biliary Cirrhosis ? ### Response: The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary Biliary Cirrhosis ? ### Response: The first and most common symptoms of primary biliary cirrhosis are - fatigue, or feeling tired - itching skin, and darkened skin in itching areas due to scratching - dry eyes and mouth Some people may have jaundice, a condition that causes the skin and whites of the eyes to turn yellow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Primary Biliary Cirrhosis ? ### Response: Most complications of primary biliary cirrhosis are related to cirrhosis and start after primary biliary cirrhosis progresses to cirrhosis. In some cases, portal hypertension and esophageal varices may develop before cirrhosis. Portal hypertension. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary Biliary Cirrhosis ? ### Response: A health care provider may use the following tests to diagnose primary biliary cirrhosis: - a medical and family history - a physical exam - blood tests - imaging tests - a liver biopsy A health care provider usually bases a diagnosis of primary biliary cirrhosis on two out of three of the following criteria: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Biliary Cirrhosis ? ### Response: Treatment for primary biliary cirrhosis depends on how early a health care provider diagnoses the disease and whether complications are present. In the early stages of primary biliary cirrhosis, treatment can slow the progression of liver damage to cirrhosis. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Primary Biliary Cirrhosis ? ### Response: A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Primary Biliary Cirrhosis ? ### Response: - Primary biliary cirrhosis is a chronic disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear. - When chronic inflammation damages the bile ducts, bile and toxic wastes build up in the liver, damaging liver tissue. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kidney Disease of Diabetes ? ### Response: People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are eGFR and urine albumin. - eGFR. eGFR stands for estimated glomerular filtration rate. Each kidney contains about 1 million tiny filters made up of blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kidney Disease of Diabetes ? ### Response: People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are eGFR and urine albumin. - eGFR. eGFR stands for estimated glomerular filtration rate. Each kidney contains about 1 million tiny filters made up of blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Kidney Disease of Diabetes ? ### Response: Blood Pressure Medicines Scientists have made great progress in developing methods that slow the onset and progression of kidney disease in people with diabetes. Drugs used to lower blood pressure can slow the progression of kidney disease significantly. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Kidney Disease of Diabetes ? ### Response: Blood Pressure Medicines Scientists have made great progress in developing methods that slow the onset and progression of kidney disease in people with diabetes. Drugs used to lower blood pressure can slow the progression of kidney disease significantly. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Disease of Diabetes ? ### Response: - Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Disease of Diabetes ? ### Response: - Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Disease of Diabetes ? ### Response: - Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Lactose Intolerance ? ### Response: Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products. If your small intestine does not produce much lactase, you cannot break down much lactose. Lactose that does not break down goes to your colon. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Lactose Intolerance ? ### Response: Common symptoms of lactose intolerance include - bloating, a feeling of fullness or swelling, in your belly - pain in your belly - diarrhea - gas - nausea You may feel symptoms 30 minutes to 2 hours after you have milk or milk products. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Lactose Intolerance ? ### Response: Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Lactose Intolerance ? ### Response: - Lactose is a sugar found in milk and milk products. - Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products. - Your doctor will try to find out if you have lactose intolerance with a medical, family, and diet history; a physical exam; and medical tests. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cystocele ? ### Response: A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. The bladder, located in the pelvis between the pelvic bones, is a hollow, muscular, balloon-shaped organ that expands as it fills with urine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cystocele ? ### Response: A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina or through the vaginal opening. In a cystocele, the bladder tissue remains covered by the vaginal skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cystocele ? ### Response: The symptoms of a cystocele may include - a vaginal bulge - the feeling that something is falling out of the vagina - the sensation of pelvic heaviness or fullness - difficulty starting a urine stream - a feeling of incomplete urination - frequent or urgent urination " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cystocele ? ### Response: Diagnosing a cystocele requires medical tests and a physical exam of the vagina. Medical tests take place in a health care providers office, an outpatient center, or a hospital. The health care provider will ask about symptoms and medical history. A health care provider uses a grading system to determine the severity of a womans cystocele. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cystocele ? ### Response: Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms. If a womans cystocele does not bother her, a health care provider may recommend only that she avoid heavy lifting or straining, which could worsen her cystocele. If a woman has symptoms that bother her and wants treatment, the health care provider may recommend pelvic muscle exercises, a vaginal pessary, or surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cystocele ? ### Response: Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms. If a womans cystocele does not bother her, a health care provider may recommend only that she avoid heavy lifting or straining, which could worsen her cystocele. If a woman has symptoms that bother her and wants treatment, the health care provider may recommend pelvic muscle exercises, a vaginal pessary, or surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Cystocele ? ### Response: - A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. - A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina or through the vaginal opening. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Whipple Disease ? ### Response: Whipple disease is a rare bacterial infection that primarily affects the small intestine. The infection may spread to any organ in the body; however, it more commonly affects the - joints - central nervous system, which includes the brain, the spinal cord, and nerves located throughout the body - heart - eyes - lungs " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Whipple Disease ? ### Response: The small intestine is part of the upper gastrointestinal (GI) tract and is a tube-shaped organ between the stomach and large intestine. The upper GI tract also includes the mouth, esophagus, stomach, and duodenum, or the first part of the small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Whipple Disease ? ### Response: Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. The villi take on an abnormal, clublike appearance and the damaged intestinal lining does not properly absorb nutrients, causing diarrhea and malnutrition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Whipple Disease ? ### Response: Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are - diarrhea - weight loss caused by malabsorption A person may not have diarrhea. Instead, other signs and symptoms of Whipple disease may appear, such as " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Whipple Disease ? ### Response: People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. As a result of delayed diagnosis or treatment, people may experience the following complications in other areas of the body: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Whipple Disease ? ### Response: A health care provider may use several tests and exams to diagnose Whipple disease, including the following: - medical and family history - physical exam - blood tests - upper GI endoscopy and enteroscopy A patient may be referred to a gastroenterologista doctor who specializes in digestive diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whipple Disease ? ### Response: The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. Health care providers choose antibiotics that treat the infection in the small intestine and cross the blood-brain barriera layer of tissue around the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whipple Disease ? ### Response: The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. Health care providers choose antibiotics that treat the infection in the small intestine and cross the blood-brain barriera layer of tissue around the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Whipple Disease ? ### Response: The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. Health care providers choose antibiotics that treat the infection in the small intestine and cross the blood-brain barriera layer of tissue around the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Whipple Disease ? ### Response: - Whipple disease is a rare bacterial infection that primarily affects the small intestine. Left untreated, Whipple disease gets worse and is usually life threatening. - Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Sexual and Urologic Problems of Diabetes? ? ### Response: Risk factors are conditions that increase the chances of getting a particular disease. The more risk factors people have, the greater their chances of developing that disease or condition. Diabetic neuropathy and related sexual and urologic problems appear to be more common in people who " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Sexual and Urologic Problems of Diabetes ? ### Response: People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications of diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nerve Disease and Bladder Control ? ### Response: Nerves that work poorly can lead to three different kinds of bladder control problems. Overactive bladder. Damaged nerves may send signals to the bladder at the wrong time, causing its muscles to squeeze without warning. The symptoms of overactive bladder include " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nerve Disease and Bladder Control ? ### Response: Many events or conditions can damage nerves and nerve pathways. Some of the most common causes are - vaginal childbirth - infections of the brain or spinal cord - diabetes - stroke - accidents that injure the brain or spinal cord - multiple sclerosis - heavy metal poisoning " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nerve Disease and Bladder Control ? ### Response: The treatment for a bladder control problem depends on the cause of the nerve damage and the type of voiding dysfunction that results. In the case of overactive bladder, your doctor may suggest a number of strategies, including bladder training, electrical stimulation, drug therapy, and, in severe cases where all other treatments have failed, surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nerve Disease and Bladder Control ? ### Response: The job of the sphincter muscles is to hold urine in the bladder by squeezing the urethra shut. If the urethral sphincter fails to stay closed, urine may leak out of the bladder. When nerve signals are coordinated properly, the sphincter muscles relax to allow urine to pass through the urethra as the bladder contracts to push out urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nerve Disease and Bladder Control ? ### Response: Urine retention may occur either because the bladder wall muscles cannot contract or because the sphincter muscles cannot relax. Catheter. A catheter is a thin tube that can be inserted through the urethra into the bladder to allow urine to flow into a collection bag. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Failure: What to Expect ? ### Response: For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. A persons treatment will dictate the type of diet that should be followed: " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Failure: What to Expect ? ### Response: - Kidney failure can affect a persons health in several ways. - When the kidneys stop working, waste products build up in the blood, a condition known as uremia. - People with kidney failure can avoid most of the problems of uremia by having regular dialysis treatments and limiting foods that contain sodium, potassium, and phosphorus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson Disease ? ### Response: Wilson disease is a genetic disease that prevents the body from removing extra copper. The body needs a small amount of copper from food to stay healthy; however, too much copper is poisonous. Normally, the liver filters extra copper and releases it into bile. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson Disease ? ### Response: The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many important functions, including " "Below is an instruction from Human. Write a response. ### Instruction: What causes Wilson Disease ? ### Response: Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wilson Disease ? ### Response: The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. Wilson disease is present at birth; however, the signs and symptoms of the disease do not appear until the copper builds up in the liver, the brain, or other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Wilson Disease ? ### Response: People who have Wilson disease that is not treated or diagnosed early can have serious complications, such as - cirrhosisscarring of the liver - kidney damageas liver function decreases, the kidneys may be damaged - persistent nervous sys " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Wilson Disease ? ### Response: A health care provider may use several tests and exams to diagnose Wilson disease, including the following: - medical and family history - physical exam - blood tests - urine tests - liver biopsy - imaging tests Health care providers typically see the same symptoms of Wilson disease in other conditions, and the symptoms of Wilson disease do not occur together often, making the disease difficult to diagnose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wilson Disease ? ### Response: A health care provider will treat Wilson disease with a lifelong effort to reduce and control the amount of copper in the body. Treatment may include - medications - changes in eating, diet, and nutrition - a liver transplant " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Wilson Disease ? ### Response: People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as - shellfish - liver - mushrooms - nuts - chocolate People should not eat these foods during the initial treatment and talk with the health care provider to discuss if they are safe to eat in moderation during maintenance treatment. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Wilson Disease ? ### Response: A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing. A health care provider may be able to diagnose Wilson disease before symptoms appear. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Wilson Disease ? ### Response: - Wilson disease is a genetic disease that prevents the body from removing extra copper. - Normally, the liver filters extra copper and releases it into bile. In Wilson disease, the liver does not filter copper correctly and copper builds up in the liver, brain, eyes, and other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anemia of Inflammation and Chronic Disease ? ### Response: Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. Hemoglobin is an iron-rich protein that gives blood its red color and lets red blood cells transport oxygen from the lungs to the bodys tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anemia of Inflammation and Chronic Disease ? ### Response: Anemia of inflammation and chronic disease is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Anemia of Inflammation and Chronic Disease? ? ### Response: While AI/ACD can affect people at any age, older adults are especially at risk because they have the highest rates of chronic disease. AI/ACD is also common among hospitalized patients, particularly those with chronic illnesses. More than 130 million Americans live with at least one chronic illness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Anemia of Inflammation and Chronic Disease ? ### Response: Anemia of inflammation and chronic disease is caused by red blood cells not functioning normally, so they cannot absorb and use iron efficiently. In addition, the body cannot respond normally to erythropoietin (EPO), a hormone made by the kidneys that stimulates bone marrow to produce red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anemia of Inflammation and Chronic Disease ? ### Response: Anemia of inflammation and chronic disease typically develops slowly and, because it is usually mild, may cause few or no symptoms. Symptoms of anemia may also be masked by the symptoms of the underlying disease. Sometimes, AI/ACD can cause or contribute to " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anemia of Inflammation and Chronic Disease ? ### Response: To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). A blood test involves drawing a persons blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The CBC includes a measurement of a persons hematocrit, the percentage of the blood that consists of red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Anemia of Inflammation and Chronic Disease ? ### Response: Anemia of inflammation and chronic disease often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness. If this treatment is successful, the anemia usually resolves. For example, antibiotics prescribed for infection and anti-inflammatory medications prescribed for rheumatoid arthritis or IBD can cause AI/ACD to disappear. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Anemia of Inflammation and Chronic Disease ? ### Response: People with anemia caused by iron, vitamin B12, or folic acid deficiencies are usually advised to include sources of these nutrients in their diets. Dietary sources of iron include - beans - breakfast cereals - chicken - enriched bread - spinach - turkey " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Anemia of Inflammation and Chronic Disease ? ### Response: - Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. - Anemia of inflammation and chronic disease (AI/ACD) is a type of anemia that commonly occurs with chronic illnesses, infections, cancer, or inflammatory disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urine Blockage in Newborns ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra fluid. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urine Blockage in Newborns ? ### Response: Many types of defects in the urinary tract can cause urine blockage: - Vesicoureteral reflux (VUR). Most children with VUR are born with a ureter that did not grow long enough during development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine backs uprefluxesfrom the bladder to the ureter and eventually to the kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urine Blockage in Newborns ? ### Response: Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Urine Blockage in Newborns ? ### Response: When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis. Hydronephrosis is the most common problem found during prenatal ultrasound of a baby in the womb. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urine Blockage in Newborns ? ### Response: Defects of the urinary tract may be diagnosed before or after the baby is born. Diagnosis before Birth Tests during pregnancy can help determine if the baby is developing normally in the womb. - Ultrasound. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urine Blockage in Newborns ? ### Response: Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urine Blockage in Newborns ? ### Response: Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gas in the Digestive Tract ? ### Response: Gas is air in the digestive tractthe large, muscular tube that extends from the mouth to the anus, where the movement of muscles, along with the release of hormones and enzymes, allows for the digestion of food. Gas leaves the body when people burp through the mouth or pass gas through the anus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gas in the Digestive Tract ? ### Response: Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. Everyone swallows a small amount of air when eating and drinking. The amount of air swallowed increases when people " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gas in the Digestive Tract ? ### Response: Most foods that contain carbohydrates can cause gas. In contrast, fats and proteins cause little gas. Foods that produce gas in one person may not cause gas in someone else, depending on how well individuals digest carbohydrates and the type of bacteria present in the intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gas in the Digestive Tract ? ### Response: The most common symptoms of gas are burping, passing gas, bloating, and abdominal pain or discomfort. However, not everyone experiences these symptoms. Burping. Burping, or belching, once in a while, especially during and after meals, is normal. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gas in the Digestive Tract ? ### Response: People can try to find the cause of gas on their own by keeping a diary of what they eat and drink and how often they burp, pass gas, or have other symptoms. A diary may help identify specific foods that cause gas. A health care provider should be consulted if " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gas in the Digestive Tract ? ### Response: Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications. People who think they have too much gas can try to treat gas on their own before seeing a health care provider. Health care providers can provide advice about reducing gas and prescribe medications that may help. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gas in the Digestive Tract ? ### Response: Peoples eating habits and diet affect the amount of gas they have. For example, eating and drinking too fast may increase the amount of air swallowed, and foods that contain carbohydrates may cause some people to have more gas. Tracking eating habits and symptoms can help identify the foods that cause more gas. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gas in the Digestive Tract ? ### Response: - Gas is air in the digestive tract. - Everyone has gas. However, many people think they pass gas too often and that they have too much gas. Having too much gas is rare. - Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proctitis ? ### Response: Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proctitis ? ### Response: Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Proctitis ? ### Response: Proctitis has many causes, including acute, or sudden and short-term, and chronic, or long-lasting, conditions. Among the causes are the following: - Sexually transmitted diseases (STDs). STDs that can be passed when a person is receiving anal sex are a common cause of proctitis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Proctitis ? ### Response: Proctitis has many causes, including acute, or sudden and short-term, and chronic, or long-lasting, conditions. Among the causes are the following: - Sexually transmitted diseases (STDs). STDs that can be passed when a person is receiving anal sex are a common cause of proctitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proctitis ? ### Response: Tenesmusan uncomfortable and frequent urge to have a bowel movementis one of the most common symptoms of proctitis. Other symptoms may include - bloody bowel movements - rectal bleeding - a feeling of rectal fullness - anal or rectal pai " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Proctitis ? ### Response: To diagnose proctitis, a health care provider will take a complete medical history and do a physical exam. The health care provider will ask the patient about symptoms, current and past medical conditions, family history, and sexual behavior that increases the risk of STD-induced proctitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Proctitis ? ### Response: Treatment of proctitis depends on its cause. The goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if it is present. Only a doctor can determine the cause of proctitis and the best course of treatment. With proper medical attention, proctitis can be successfully treated. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Proctitis ? ### Response: Drinking plenty of fluids is important when diarrhea or frequent passage of loose or liquid stools occurs. Avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen diarrhea symptoms. Some people also have problems digesting lactosethe sugar found in milk and milk productsduring or after a bout of diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Proctitis ? ### Response: Proctitis that is not treated or does not respond to treatment may lead to complications, including - severe bleeding and anemiaa condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Proctitis ? ### Response: People who receive anal sex can avoid getting STD-related proctitis by having their partner use a condom. If anorectal trauma caused proctitis, stopping the activity that triggered inflammation often will stop the inflammation and prevent recurrence. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Proctitis ? ### Response: - Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. - Common causes of proctitis are sexually transmitted diseases (STDs), non-STD infections, anorectal trauma, ulcerative colitis and Crohns disease, radiation therapy, and antibiotic use. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prevent diabetes problems: Keep your eyes healthy ? ### Response: Often, no symptoms appear during the early stages of diabetes retina problems. As retina problems worsen, your symptoms might include - blurry or double vision - rings, flashing lights, or blank spots in your vision - dark or floating spo " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prevent diabetes problems: Keep your eyes healthy ? ### Response: You can help your diabetes retina problems by controlling your - blood glucose - blood pressure - cholesterol and triglycerides, or types of blood fat If your retinopathy still does not improve, then you may need other treatments. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastroparesis ? ### Response: Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from the stomach to the small intestine. Normally, the muscles of the stomach, which are controlled by the vagus nerve, contract to break up food and move it through the gastrointestinal (GI) tract. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gastroparesis ? ### Response: Most people diagnosed with gastroparesis have idiopathic gastroparesis, which means a health care provider cannot identify the cause, even with medical tests. Diabetes is the most common known cause of gastroparesis. People with diabetes have high levels of blood glucose, also called blood sugar. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gastroparesis ? ### Response: Gastroparesis is diagnosed through a physical exam, medical history, blood tests, tests to rule out blockage or structural problems in the GI tract, and gastric emptying tests. Tests may also identify a nutritional disorder or underlying disease. To rule out any blockage or other structural problems, the health care provider may perform one or more of the following tests: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gastroparesis ? ### Response: Treatment of gastroparesis depends on the severity of the persons symptoms. In most cases, treatment does not cure gastroparesis, which is usually a chronic, or long-lasting, condition. Gastroparesis is also a relapsing conditionthe symptoms can come and go for periods of time. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gastroparesis ? ### Response: Changing eating habits can sometimes help control the severity of gastroparesis symptoms. A health care provider may suggest eating six small meals a day instead of three large ones. If less food enters the stomach each time a person eats, the stomach may not become overly full, allowing it to empty more easily. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gastroparesis ? ### Response: An elevated blood glucose level directly interferes with normal stomach emptying, so good blood glucose control in people with diabetes is important. However, gastroparesis can make blood glucose control difficult. When food that has been delayed in the stomach finally enters the small intestine and is absorbed, blood glucose levels rise. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastroparesis ? ### Response: The problems of gastroparesis can include - severe dehydration due to persistent vomiting - gastroesophageal reflux disease (GERD), which is GER that occurs more than twice a week for a few weeks; GERD can lead to esophagitis irritation of " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gastroparesis ? ### Response: - Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from the stomach to the small intestine. - Gastroparesis can occur when the vagus nerve is damaged by illness or injury and the stomach muscles stop working normally. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abdominal Adhesions ? ### Response: Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces, preventing them from sticking together as the body moves. However, abdominal adhesions cause tissues and organs in the abdominal cavity to stick together. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abdominal Adhesions ? ### Response: The abdominal cavity is the internal area of the body between the chest and hips that contains the lower part of the esophagus, stomach, small intestine, and large intestine. The esophagus carries food and liquids from the mouth to the stomach, which slowly pumps them into the small and large intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Abdominal Adhesions ? ### Response: Abdominal surgery is the most frequent cause of abdominal adhesions. Surgery-related causes include - cuts involving internal organs - handling of internal organs - drying out of internal organs and tissues - contact of internal tissues with foreign materials, such as gauze, surgical gloves, and stitches - blood or blood clots that were not rinsed away during surgery " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Abdominal Adhesions? ? ### Response: Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions.1 Surgery in the lower abdomen and pelvis, including bowel and gynecological operations, carries an even greater chance of abdominal adhesions. Abdominal adhesions can become larger and tighter as time passes, sometimes causing problems years after surgery. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Abdominal Adhesions? ? ### Response: Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions.1 Surgery in the lower abdomen and pelvis, including bowel and gynecological operations, carries an even greater chance of abdominal adhesions. Abdominal adhesions can become larger and tighter as time passes, sometimes causing problems years after surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Abdominal Adhesions ? ### Response: Abdominal adhesions can cause intestinal obstruction and female infertilitythe inability to become pregnant after a year of trying. Abdominal adhesions can lead to female infertility by preventing fertilized eggs from reaching the uterus, where fetal development takes place. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Abdominal Adhesions ? ### Response: A complete intestinal obstruction is life threatening and requires immediate medical attention and often surgery. Symptoms of an intestinal obstruction include - severe abdominal pain or cramping - nausea - vomiting - bloating - loud bowel sounds - abdominal swelling - the inability to have a bowel movement or pass gas - constipationa condition in which a person has fewer than three bowel movements a week; the bowel movements may be painful " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Abdominal Adhesions ? ### Response: Abdominal adhesions cannot be detected by tests or seen through imaging techniques such as x rays or ultrasound. Most abdominal adhesions are found during surgery performed to examine the abdomen. However, abdominal x rays, a lower gastrointestinal (GI) series, and computerized tomography (CT) scans can diagnose intestinal obstructions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Abdominal Adhesions ? ### Response: Abdominal adhesions that do not cause symptoms generally do not require treatment. Surgery is the only way to treat abdominal adhesions that cause pain, intestinal obstruction, or fertility problems. More surgery, however, carries the risk of additional abdominal adhesions. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Abdominal Adhesions ? ### Response: Abdominal adhesions are diffi cult to prevent; however, certain surgical techniques can minimize abdominal adhesions. Laparoscopic surgery decreases the potential for abdominal adhesions because several tiny incisions are made in the lower abdomen instead of one large incision. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Abdominal Adhesions ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing abdominal adhesions. A person with a partial intestinal obstruction may relieve symptoms with a liquid or low- fiber diet, which is more easily broken down into smaller particles by the digestive system. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Abdominal Adhesions ? ### Response: - Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Abdominal adhesions cause tissues and organs in the abdominal cavity to stick together. - Abdominal surgery is the most frequent cause of abdominal adhesions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 4 Steps to Manage Your Diabetes for Life ? ### Response: What is diabetes? There are three main types of diabetes: - Type 1 diabetes Your body does not make insulin. This is a problem because you need insulin to take the sugar (glucose) from the foods you eat and turn it into energy for your body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Causes of Diabetes ? ### Response: Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolismthe way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Insulin Resistance and Beta Cell Dysfunction Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Causes of Diabetes ? ### Response: - Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Artery Stenosis ? ### Response: Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Artery Stenosis ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Renal Artery Stenosis ? ### Response: About 90 percent of RAS is caused by atherosclerosisclogging, narrowing, and hardening of the renal arteries.2 In these cases, RAS develops when plaquea sticky substance made up of fat, cholesterol, calcium, and other material found in the bloodbuilds up on the inner wall of one or both renal arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal Artery Stenosis ? ### Response: In many cases, RAS has no symptoms until it becomes severe. The signs of RAS are usually either high blood pressure or decreased kidney function, or both, but RAS is often overlooked as a cause of high blood pressure. RAS should be considered as a cause of high blood pressure in people who " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Renal Artery Stenosis ? ### Response: A health care provider can diagnose RAS by listening to the abdomen with a stethoscope and performing imaging tests. When blood flows through a narrow artery, it sometimes makes a whooshing sound, called a bruit. The health care provider may place a stethoscope on the front or the side of the abdomen to listen for this sound. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Renal Artery Stenosis ? ### Response: Treatment for RAS includes lifestyle changes, medications, and surgery and aims to - prevent RAS from getting worse - treat RVH - relieve the blockage of the renal arteries RAS that has not led to RVH or caused a significant blockage of the artery may not need treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Renal Artery Stenosis ? ### Response: Limiting intake of fats, cholesterol, sodium, and sugar can help prevent atherosclerosis, which can lead to RAS. Most sodium in the diet comes from salt. A healthy diet that prevents people from becoming overweight or obese can also help prevent atherosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Renal Artery Stenosis ? ### Response: - Renal artery stenosis (RAS) is the narrowing of one or both renal arteries. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body. - Renovascular hypertension (RVH) is high blood pressure caused by RAS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your kidneys healthy ? ### Response: Your kidneys are two bean-shaped organs, each about the size of a fist. They are located just below your rib cage, one on each side of your spine. Every day, your two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. Urine flows from your kidneys to your bladder through tubes called ureters. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your kidneys healthy ? ### Response: Blood pressure is the force of blood flow inside your blood vessels. Blood pressure is written with two numbers separated by a slash. For example, a blood pressure result of 130/80 is said as 130 over 80. The first number is the pressure in your blood vessels as your heart beats and pushes blood through your blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prevent diabetes problems: Keep your kidneys healthy ? ### Response: In the early stages, diabetic kidney disease does not have any symptoms. Kidney disease happens so slowly that you may not feel sick at all for many years. You may not feel sick even when your kidneys do only half the job of healthy kidneys. Only your doctor can tell if you have kidney disease by checking the protein, or albumin, level in your urine at least once a year. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Prevent diabetes problems: Keep your kidneys healthy ? ### Response: Your dietitian or doctor may suggest a special eating plan for you. You may have to avoid a diet high in protein, fat, sodium, and potassium. - Cut back on protein, especially animal products such as meat. Damaged kidneys may fail to remove protein waste products from your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Prevent diabetes problems: Keep your kidneys healthy ? ### Response: Your dietitian or doctor may suggest a special eating plan for you. You may have to avoid a diet high in protein, fat, sodium, and potassium. - Cut back on protein, especially animal products such as meat. Damaged kidneys may fail to remove protein waste products from your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crohn's Disease ? ### Response: Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. Most commonly, Crohn's affects the small intestine and the beginning of the large intestine. However, the disease can affect any part of the GI tract, from the mouth to the anus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crohn's Disease ? ### Response: The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Crohn's Disease ? ### Response: The exact cause of Crohn's disease is unknown. Researchers believe the following factors may play a role in causing Crohn's disease: - autoimmune reaction - genes - environment Autoimmune reaction. Scientists believe one cause of Crohn's disease may be an autoimmune reactionwhen a person's immune system attacks healthy cells in the body by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crohn's Disease ? ### Response: The most common signs and symptoms of Crohn's disease are - diarrhea - abdominal cramping and pain - weight loss Other general signs and symptoms include - feeling tired - nausea or loss of appetite - fever - anemiaa condition in which the body has fewer red blood cells than normal " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crohn's Disease ? ### Response: A health care provider treats Crohn's disease with - medications - bowel rest - surgery Which treatment a person needs depends on the severity of the disease and symptoms. Each person experiences Crohn's disease differently, so health care providers adjust treatments to improve the person's symptoms and induce, or bring about, remission. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Crohn's Disease ? ### Response: Researchers have not found that eating, diet, and nutrition cause Crohn's disease symptoms. Good nutrition is important in the management of Crohn's disease, however. Dietary changes can help reduce symptoms. A health care provider may recommend that a person make dietary changes such as " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Crohn's Disease ? ### Response: Complications of Crohn's disease can include - bowel obstruction. Crohn's disease can thicken the wall of the intestine. Over time, the thickened areas of the intestine can narrow, which can block the intestine. A partial or complete obstruction, also called a bowel blockage, can block the movement of food or stool through the intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Crohn's Disease ? ### Response: - Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. - The exact cause of Crohn's disease is unknown. Researchers believe that factors such as an autoimmune reaction, genes, and environment may play a role in causing Crohn's disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Financial Help for Diabetes Care ? ### Response: Diabetes management and treatment is expensive. According to the American Diabetes Association (ADA), the average cost of health care for a person with diabetes is $13,741 a yearmore than twice the cost of health care for a person without diabetes.1 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Financial Help for Diabetes Care ? ### Response: Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include the following: - private health insurance, which includes group and individual health insurance - government health insurance, such as Medicare, Medicaid, the Childrens Health Insurance Program (CHIP), TRICARE, and veterans health care programs " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Financial Help for Diabetes Care ? ### Response: Insurance companies sell private health insurance plans. Two types of private health insurance are - Group health insurance. People may be eligible to purchase group health insurance through their employer or union or through a family members employer or union. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Financial Help for Diabetes Care ? ### Response: Medicare is a federal health insurance program that pays health care costs for eligible people who are - age 65 or older - under age 65 with certain disabilities - of any age with end-stage renal diseasetotal and permanent kidney failure that requires a kidney transplant or blood-filtering treatments called dialysis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Financial Help for Diabetes Care ? ### Response: People who enroll in Medicare can register with www.MyMedicare.gov, a secure online service, and use the site to access their personal Medicare information at any time. People can view their claims and order history, and see a description of covered preventive services. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Financial Help for Diabetes Care ? ### Response: Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program. The Federal Government requires that Medicaid programs cover a specific set of services; however, states can choose to cover more services in addition to the ones required. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Financial Help for Diabetes Care ? ### Response: Assistive technology is any device that assists, adapts, or helps to rehabilitate someone with a disability so he or she may function more safely, effectively, and independently at home, at work, and in the community. Assistive technology may include " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Financial Help for Diabetes Care ? ### Response: - Diabetes management and treatment is expensive. Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses. - Health insurance helps pay for medical care, including the cost of diabetes care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Viral Hepatitis: A through E and Beyond ? ### Response: Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis. All of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which the infection is prolonged, sometimes lifelong. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Viral Hepatitis: A through E and Beyond ? ### Response: Symptoms include - jaundice, which causes a yellowing of the skin and eyes - fatigue - abdominal pain - loss of appetite - nausea - vomiting - diarrhea - low grade fever - headache However, some people do not have symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Viral Hepatitis: A through E and Beyond ? ### Response: - Viral hepatitis is inflammation of the liver caused by the hepatitis A, B, C, D, or E viruses. - Depending on the type of virus, viral hepatitis is spread through contaminated food or water, contact with infected blood, sexual contact with an infected person, or from mother to child during childbirth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Viral Hepatitis: A through E and Beyond ? ### Response: Some cases of viral hepatitis cannot be attributed to the hepatitis A, B, C, D, or E viruses, or even the less common viruses that can infect the liver, such as cytomegalovirus, Epstein-Barr virus, herpesvirus, parvovirus, and adenovirus. These cases are called non-AE hepatitis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Diabetic neuropathies are a family of nerve disorders caused by diabetes. People with diabetes can, over time, develop nerve damage throughout the body. Some people with nerve damage have no symptoms. Others may have symptoms such as pain, tingling, or numbnessloss of feelingin the hands, arms, feet, and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: The causes are probably different for different types of diabetic neuropathy. Researchers are studying how prolonged exposure to high blood glucose causes nerve damage. Nerve damage is likely due to a combination of factors: - metabolic fac " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Symptoms depend on the type of neuropathy and which nerves are affected. Some people with nerve damage have no symptoms at all. For others, the first symptom is often numbness, tingling, or pain in the feet. Symptoms are often minor at first, and because most nerve damage occurs over several years, mild cases may go unnoticed for a long time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Diabetic neuropathy can be classified as peripheral, autonomic, proximal, or focal. Each affects different parts of the body in various ways. - Peripheral neuropathy, the most common type of diabetic neuropathy, causes pain or loss of feeling in the toes, feet, legs, hands, and arms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Peripheral neuropathy, also called distal symmetric neuropathy or sensorimotor neuropathy, is nerve damage in the arms and legs. Feet and legs are likely to be affected before hands and arms. Many people with diabetes have signs of neuropathy that a doctor could note but feel no symptoms themselves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Autonomic neuropathy affects the nerves that control the heart, regulate blood pressure, and control blood glucose levels. Autonomic neuropathy also affects other internal organs, causing problems with digestion, respiratory function, urination, sexual response, and vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Proximal neuropathy, sometimes called lumbosacral plexus neuropathy, femoral neuropathy, or diabetic amyotrophy, starts with pain in the thighs, hips, buttocks, or legs, usually on one side of the body. This type of neuropathy is more common in those with type 2 diabetes and in older adults with diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Focal neuropathy appears suddenly and affects specific nerves, most often in the head, torso, or leg. Focal neuropathy may cause - inability to focus the eye - double vision - aching behind one eye - paralysis on one side of the face, called Bell's palsy - severe pain in the lower back or pelvis - pain in the front of a thigh - pain in the chest, stomach, or side - pain on the outside of the shin or inside of the foot - chest or abdominal pain that is sometimes mistaken for heart disease, a heart attack, or appendicitis " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: Doctors diagnose neuropathy on the basis of symptoms and a physical exam. During the exam, the doctor may check blood pressure, heart rate, muscle strength, reflexes, and sensitivity to position changes, vibration, temperature, or light touch. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: The first treatment step is to bring blood glucose levels within the normal range to help prevent further nerve damage. Blood glucose monitoring, meal planning, physical activity, and diabetes medicines or insulin will help control blood glucose levels. Symptoms may get worse when blood glucose is first brought under control, but over time, maintaining lower blood glucose levels helps lessen symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diabetic Neuropathies: The Nerve Damage of Diabetes ? ### Response: - Diabetic neuropathies are nerve disorders caused by many of the abnormalities common to diabetes, such as high blood glucose. - Neuropathy can affect nerves throughout the body, causing numbness and sometimes pain in the hands, arms, feet, or legs, and problems with the digestive tract, heart, sex organs, and other body systems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis A ? ### Response: Hepatitis* A is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis A ? ### Response: The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for What I need to know about Hepatitis A? ? ### Response: Anyone can get hepatitis A, but those more likely to are people who - travel to developing countries - live with someone who currently has an active hepatitis A infection - use illegal drugs, including noninjection drugs - have unprotected sex with an infected person - provide child care " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Hepatitis A ? ### Response: Most people do not have any symptoms of hepatitis A. If symptoms of hepatitis A occur, they include - feeling tired - muscle soreness - upset stomach - fever - loss of appetite - stomach pain - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Hepatitis A ? ### Response: Most people do not have any symptoms of hepatitis A. If symptoms of hepatitis A occur, they include - feeling tired - muscle soreness - upset stomach - fever - loss of appetite - stomach pain - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hepatitis A ? ### Response: Hepatitis A usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. Talk with your doctor before taking prescription and over-the-counter medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hepatitis A ? ### Response: Hepatitis A usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. Talk with your doctor before taking prescription and over-the-counter medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Hepatitis A ? ### Response: - Hepatitis A is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis A, but some people are more likely to than others. - You could get hepatitis A through contact with an infected persons stool. - Most people do not have any symptoms of hepatitis A. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Response: People treated with pituitary hGH in other countries also got CJD. HHS doctors share information with doctors around the world about health issues such as CJD and read reports about CJD and other health problems related to pituitary hGH treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Response: Most people were treated with pituitary hGH because their pituitary glands did not make enough of their own GH. Some of these people also had problems making other pituitary hormones. One of these hormones tells the adrenal glands to make cortisol, a hormone needed for life. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report)? ? ### Response: No one can say what an individual person's risk is. Of the approximately 7,700 people who received NHPP pituitary hGH, 29 people got CJD. The two things that seem to be connected with getting CJD after pituitary hGH treatment are 1. How long a person was treated: " "Below is an instruction from Human. Write a response. ### Instruction: What causes National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Response: We have not found any particular preparation of pituitary hGH that is especially likely to carry CJD. We believe that CJD did not come from a single infected pituitary gland or preparation. Prior to 1977, in an effort to extract as much hormone as possible from the pituitary glands, the glands were often processed repeatedly. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Response: CJD is usually diagnosed based on signs and symptoms of the illness, how severe they are, and how quickly they become worse. However, doctors must study brain tissue from a biopsy or autopsy in order to make a definite diagnosis of CJD. Other tests can suggest CJD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Response: Some parents did not tell their children about receiving treatment with pituitary hGH and the possible risk of CJD. These children are now adults. Although the HHS no longer sends annual information about the problem of CJD in pituitary hGH recipients, the HHS does maintain a mailing list should any important new information become available. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Foodborne Illnesses ? ### Response: Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Foodborne Illnesses ? ### Response: The majority of foodborne illnesses are caused by harmful bacteria and viruses.2 Some parasites and chemicals also cause foodborne illnesses. Bacteria Bacteria are tiny organisms that can cause infections of the GI tract. Not all bacteria are harmful to humans. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Foodborne Illnesses? ? ### Response: Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including - infants and children - pregnant women and their fetuses - older adults - people with weak immune systems " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Foodborne Illnesses ? ### Response: Symptoms of foodborne illnesses depend on the cause. Common symptoms of many foodborne illnesses include - vomiting - diarrhea or bloody diarrhea - abdominal pain - fever - chills Symptoms can range from mild to serious and can last from a few hours to several days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Foodborne Illnesses ? ### Response: Foodborne illnesses may lead to dehydration, hemolytic uremic syndrome (HUS), and other complications. Acute foodborne illnesses may also lead to chronicor long lastinghealth problems. Dehydration When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Foodborne Illnesses ? ### Response: To diagnose foodborne illnesses, health care providers ask about symptoms, foods and beverages recently consumed, and medical history. Health care providers will also perform a physical examination to look for signs of illness. Diagnostic tests for foodborne illnesses may include a stool culture, in which a sample of stool is analyzed in a laboratory to check for signs of infections or diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Foodborne Illnesses ? ### Response: The only treatment needed for most foodborne illnesses is replacing lost fluids and electrolytes to prevent dehydration. Over-the-counter medications such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Foodborne Illnesses ? ### Response: Foodborne illnesses can be prevented by properly storing, cooking, cleaning, and handling foods. - Raw and cooked perishable foodsfoods that can spoilshould be refrigerated or frozen promptly. If perishable foods stand at room temperature for more than 2 hours, they may not be safe to eat. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Foodborne Illnesses ? ### Response: - Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. - Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including infants and children, pregnant women and their fetuses, older adults, and people with weakened immune systems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Analgesic Nephropathy (Painkillers and the Kidneys) ? ### Response: If you have been taking analgesics regularly to control chronic pain, you may be advised to find new ways to treat your pain, such as behavior modification or relaxation techniques. Depending on how much your kidney function has declined, you may be advised to change your diet, limit the fluids you drink, or take medications to avoid anemia and bone problems caused by kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cyclic Vomiting Syndrome ? ### Response: Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. The episodes can last from a few hours to several days. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cyclic Vomiting Syndrome ? ### Response: The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Cyclic Vomiting Syndrome ? ### Response: Cyclic vomiting syndrome is more common in children than adults, although reports of the syndrome in adults have increased in recent years.1 Usually, children are about 5 years old when diagnosed with cyclic vomiting syndrome, which occurs in every three out of 100,000 children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cyclic Vomiting Syndrome ? ### Response: The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. A person may also experience one or more of the following symptoms: - retching, or making an attempt to vomit - heaving or gagging - lack of appetite - abdominal pain - diarrhea - fever - dizziness - headache - sensitivity to light " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Cyclic Vomiting Syndrome ? ### Response: The severe vomiting and retching that define cyclic vomiting syndrome increase the chance of developing several complications, including dehydration, esophagitis, a Mallory-Weiss tear, and tooth decay. - Dehydration may occur when a person does not replace fluids that were lost because of vomiting and diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cyclic Vomiting Syndrome ? ### Response: People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: - excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cyclic Vomiting Syndrome ? ### Response: A specific test to diagnose cyclic vomiting syndrome does not exist; instead, a health care provider will rule out other conditions and diagnose the syndrome based upon - a medical and family history - a physical exam - a pattern or cycle of symptoms - blood tests - urine tests - imaging tests - upper GI endoscopy - a gastric emptying test " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cyclic Vomiting Syndrome ? ### Response: A health care provider may refer patients to a gastroenterologist for treatment. People with cyclic vomiting syndrome should get plenty of rest and take medications to prevent a vomiting episode, stop an episode in progress, speed up recovery, or relieve associated symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Cyclic Vomiting Syndrome ? ### Response: A person should stay away from known triggers, especially during the well phase, as well as - get adequate sleep to prevent exhaustion - treat sinus problems or allergies - seek help on reducing stress and anxiety - avoid foods that trigger episodes or foods with additives " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Cyclic Vomiting Syndrome ? ### Response: During the prodrome and vomiting phases of cyclic vomiting syndrome, a person will generally take in little or no nutrition by mouth. During the recovery phase, the person may be quite hungry as soon as the vomiting stops. As eating resumes, a person or his or her family should watch for the return of nausea. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Cyclic Vomiting Syndrome ? ### Response: - Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. - The disorder can affect a person for months, years, or decades. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Causes of Diabetes ? ### Response: Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolismthe way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Insulin Resistance and Beta Cell Dysfunction Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Causes of Diabetes ? ### Response: - Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Retention ? ### Response: Urinary retention is the inability to empty the bladder completely. Urinary retention can be acute or chronic. Acute urinary retention happens suddenly and lasts only a short time. People with acute urinary retention cannot urinate at all, even though they have a full bladder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Retention ? ### Response: The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. In order for normal urination to occur, all body parts in the urinary tract need to work together in the correct order. Kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Retention ? ### Response: Urinary retention can result from - obstruction of the urethra - nerve problems - medications - weakened bladder muscles Obstruction of the Urethra Obstruction of the urethra causes urinary retention by blocking the normal urine flow out of the body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Urinary Retention ? ### Response: Urinary retention in men becomes more common with age. - In men 40 to 83 years old, the overall incidence of urinary retention is 4.5 to 6.8 per 1,000 men.2 - For men in their 70s, the overall incidence increases to 100 per 1,000 men.2 - For men in their 80s, the incidence of acute urinary retention is 300 per 1,000 men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urinary Retention ? ### Response: The symptoms of acute urinary retention may include the following and require immediate medical attention: - inability to urinate - painful, urgent need to urinate - pain or discomfort in the lower abdomen - bloating of the lower abdomen " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Retention ? ### Response: A health care provider diagnoses acute or chronic urinary retention with - a physical exam - postvoid residual measurement A health care provider may use the following medical tests to help determine the cause of urinary retention: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Retention ? ### Response: A health care provider treats urinary retention with - bladder drainage - urethral dilation - urethral stents - prostate medications - surgery The type and length of treatment depend on the type and cause of urinary retention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Retention ? ### Response: Complications of urinary retention and its treatments may include - UTIs - bladder damage - kidney damage - urinary incontinence after prostate, tumor, or cancer surgery UTIs. Urine is normally sterile, and the normal flow of urine usually prevents bacteria from infecting the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Retention ? ### Response: People can prevent urinary retention before it occurs by treating some of the potential causes. For example, men with benign prostatic hyperplasia should take prostate medications as prescribed by their health care provider. Men with benign prostatic hyperplasia should avoid medications associated with urinary retention, such as over-the-counter cold and allergy medications that contain decongestants. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Retention ? ### Response: People can prevent urinary retention before it occurs by treating some of the potential causes. For example, men with benign prostatic hyperplasia should take prostate medications as prescribed by their health care provider. Men with benign prostatic hyperplasia should avoid medications associated with urinary retention, such as over-the-counter cold and allergy medications that contain decongestants. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proteinuria ? ### Response: Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Proteinuria? ? ### Response: People with diabetes, hypertension, or certain family backgrounds are at risk for proteinuria. In the United States, diabetes is the leading cause of ESRD.1 In both type 1 and type 2 diabetes, albumin in the urine is one of the first signs of deteriorating kidney function. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proteinuria ? ### Response: Proteinuria has no signs or symptoms in the early stages. Large amounts of protein in the urine may cause it to look foamy in the toilet. Also, because protein has left the body, the blood can no longer soak up enough fluid, so swelling in the hands, feet, abdomen, or face may occur. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Proteinuria ? ### Response: Until recently, an accurate protein measurement required a 24-hour urine collection. In a 24-hour collection, the patient urinates into a container, which is kept refrigerated between trips to the bathroom. The patient is instructed to begin collecting urine after the first trip to the bathroom in the morning. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Proteinuria ? ### Response: Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Proteinuria ? ### Response: - Proteinuria is a condition in which urine contains a detectable amount of protein. - Proteinuria is a sign of chronic kidney disease (CKD). - Groups at risk for proteinuria include African Americans, American Indians, Hispanics/Latinos, Pacific Islander Americans, older people, overweight people, people with diabetes or hypertension, and people who have a family history of kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nephrotic Syndrome in Adults ? ### Response: Nephrotic syndrome can be caused by diseases that affect only the kidneys, such as focal segmental glomerulosclerosis (FSGS) or membranous nephropathy. Diseases that affect only the kidneys are called primary causes of nephrotic syndrome. The glomeruli are usually the targets of these diseases for reasons that are not fully understood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nephrotic Syndrome in Adults ? ### Response: Nephrotic syndrome can be caused by diseases that affect only the kidneys, such as focal segmental glomerulosclerosis (FSGS) or membranous nephropathy. Diseases that affect only the kidneys are called primary causes of nephrotic syndrome. The glomeruli are usually the targets of these diseases for reasons that are not fully understood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Nephrotic Syndrome in Adults ? ### Response: The loss of different proteins from the body can lead to a variety of complications in people with nephrotic syndrome. Blood clots can form when proteins that normally prevent them are lost through the urine. Blood clots can block the flow of blood and oxygen through a blood vessel. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Nephrotic Syndrome in Adults ? ### Response: Urine samples are taken to diagnose people suspected of having nephrotic syndrome. Nephrotic syndrome is diagnosed when large amounts of protein are found in the urine. The blood protein albumin makes up much of the protein that is lost, though many other important proteins are also lost in nephrotic syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nephrotic Syndrome in Adults ? ### Response: Treating nephrotic syndrome includes addressing the underlying cause as well as taking steps to reduce high blood pressure, edema, high cholesterol, and the risks of infection. Treatment usually includes medications and changes in diet. Medications that lower blood pressure can also significantly slow the progression of kidney disease causing nephrotic syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Nephrotic Syndrome in Adults ? ### Response: Eating, diet, and nutrition have not been shown to play a role in causing or preventing nephrotic syndrome in adults. For people who have developed nephrotic syndrome, limiting intake of dietary sodium, often from salt, and fluid may be recommended to help reduce edema. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Diarrhea ? ### Response: Diarrhea is frequent, loose, and watery bowel movements. Bowel movements, also called stools, are body wastes passed through the rectum and anus. Stools contain what is left after your digestive system absorbs nutrients and fluids from what you eat and drink. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Diarrhea ? ### Response: Causes of diarrhea include - bacteria from contaminated food or water - viruses that cause illnesses such as the flu - parasites, which are tiny organisms found in contaminated food or water - medicines such as antibiotics - problems digesting certain foods - diseases that affect the stomach, small intestine, or colon, such as Crohns disease - problems with how the colon functions, caused by disorders such as irritable bowel syndrome " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Diarrhea ? ### Response: In addition to passing frequent, loose stools, other possible symptoms include - cramps or pain in the abdomenthe area between the chest and hips - an urgent need to use the bathroom - loss of bowel control You may feel sick to your stomach or become dehydrated. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Diarrhea ? ### Response: To find the cause of diarrhea, the health care provider may - perform a physical exam - ask about any medicines you are taking - test your stool or blood to look for bacteria, parasites, or other signs of disease or infection - ask you to stop eating certain foods to see whether your diarrhea goes away " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Diarrhea ? ### Response: Diarrhea is treated by replacing lost fluids, salts, and minerals to prevent dehydration. Taking medicine to stop diarrhea can be helpful in some cases. Medicines you can buy over the counter without a prescription include loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol, Kaopectate). " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Diarrhea ? ### Response: To prevent dehydration when you have diarrhea, it is important to drink plenty of water, but you also need to drink fluids that contain sodium, chloride, and potassium. - Adults should drink water, fruit juices, sports drinks, sodas without caffeine, and salty broths. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about Diarrhea ? ### Response: Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea. Rotavirus Diarrhea Two vaccines, RotaTeq and Rotarix, protect against rotavirusa common virus that causes diarrhea in babies and children. RotaTeq is given to babies in three doses at 2, 4, and 6 months of age. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Diarrhea ? ### Response: - Diarrhea is frequent, loose, and watery bowel movements. - Acute diarrhea is a common problem. It usually lasts only 1 or 2 days, but it may last longer. - Being dehydrated means your body does not have enough fluid to work properly. Dehydration can be serious, especially for children, older adults, and people with weakened immune systems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alagille Syndrome ? ### Response: Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomenthe area between the chest and hipsthat makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alagille Syndrome ? ### Response: The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the colon and rectumand anus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alagille Syndrome ? ### Response: Alagille syndrome is caused by a gene mutation, or defect. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the DNA sequence that makes up a gene. DNA, or deoxyribonucleic acid, is the material inside cells that carries genetic information and passes genes from parent to child. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Alagille Syndrome ? ### Response: Alagille syndrome occurs in about one of every 30,000 live births.3 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. JAG1 and NOTCH2 gene mutations are inherited in an autosomal dominant way, which means a child can get Alagille syndrome by inheriting either of the gene mutations from only one parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alagille Syndrome ? ### Response: The signs and symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation. Liver In some people, problems in the liver may be the first signs and symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Alagille Syndrome ? ### Response: The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below. Liver failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alagille Syndrome ? ### Response: A health care provider diagnoses Alagille syndrome by performing a thorough physical exam and ordering one or more of the following tests and exams: - blood test - urinalysis - x ray - abdominal ultrasound - cardiology exam - slit-lamp exam - liver biopsy - genetic testing " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alagille Syndrome ? ### Response: Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alagille Syndrome ? ### Response: Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Alagille Syndrome ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Alagille syndrome. However, these factors are important for people with Alagille syndrome, particularly children, who are malnourished, growing poorly, or have delayed puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Alagille Syndrome ? ### Response: - Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. - A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. - In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prevent diabetes problems: Keep your heart and blood vessels healthy ? ### Response: Too much glucose in the blood for a long time can cause diabetes problems. This high blood glucose, also called blood sugar, can damage many parts of the body, such as the heart, blood vessels, eyes, and kidneys. Heart and blood vessel disease can lead to heart attacks and strokes, the leading causes of death for people with diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Prevent diabetes problems: Keep your heart and blood vessels healthy ? ### Response: You can do a lot to prevent heart disease and stroke. - Keep your blood glucose under control. You can see if your blood glucose is under control by having an A1C test at least twice a year. The A1C test tells you your average blood glucose for the past 2 to 3 months. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prevent diabetes problems: Keep your heart and blood vessels healthy ? ### Response: You may have one or more of the following warning signs: - chest pain or discomfort - pain or discomfort in your arms, back, jaw, or neck - indigestion or stomach pain - shortness of breath - sweating - nausea - light-headedness " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prevent diabetes problems: Keep your heart and blood vessels healthy ? ### Response: Narrowed blood vessels leave a smaller opening for blood to flow through. Having narrowed blood vessels is like turning on a garden hose and holding your thumb over the opening. The smaller opening makes the water shoot out with more pressure. In the same way, narrowed blood vessels lead to high blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prevent diabetes problems: Keep your heart and blood vessels healthy ? ### Response: A stroke happens when part of your brain is not getting enough blood and stops working. Depending on the part of the brain that is damaged, a stroke can cause - sudden weakness or numbness of your face, arm, or leg on one side of your body - sudden confusion, trouble talking, or trouble understanding - sudden dizziness, loss of balance, or trouble walking - sudden trouble seeing in one or both eyes or sudden double vision - sudden severe headache " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Hyperparathyroidism ? ### Response: Primary hyperparathyroidism is a disorder of the parathyroid glands, also called parathyroids. Primary means this disorder originates in the parathyroid glands. In primary hyperparathyroidism, one or more of the parathyroid glands are overactive. As a result, the gland releases too much parathyroid hormone (PTH). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Hyperparathyroidism ? ### Response: The parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. Occasionally, a person is born with one or more of the parathyroid glands in another location. For example, a gland may be embedded in the thyroid, in the thymusan immune system organ located in the chestor elsewhere around this area. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Hyperparathyroidism ? ### Response: High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Hyperparathyroidism ? ### Response: In about 80 percent of people with primary hyperparathyroidism, a benign, or noncancerous, tumor called an adenoma has formed in one of the parathyroid glands.2 The tumor causes the gland to become overactive. In most other cases, the excess hormone comes from two or more overactive parathyroid glands, a condition called multiple tumors or hyperplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary Hyperparathyroidism ? ### Response: Most people with primary hyperparathyroidism have no symptoms. When symptoms appear, they are often mild and nonspecific, such as - muscle weakness - fatigue and an increased need for sleep - feelings of depression - aches and pains in bones and joints " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary Hyperparathyroidism ? ### Response: Health care providers diagnose primary hyperparathyroidism when a person has high blood calcium and PTH levels. High blood calcium is usually the first sign that leads health care providers to suspect parathyroid gland overactivity. Other diseases can cause high blood calcium levels, but only in primary hyperparathyroidism is the elevated calcium the result of too much PTH. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary Hyperparathyroidism ? ### Response: Once the diagnosis of primary hyperparathyroidism is established, other tests may be done to assess complications: - Bone mineral density test. Dual energy x-ray absorptiometry, sometimes called a DXA or DEXA scan, uses low-dose x rays to measure bone density. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Hyperparathyroidism ? ### Response: Surgery Surgery to remove the overactive parathyroid gland or glands is the only definitive treatment for the disorder, particularly if the patient has a very high blood calcium level or has had a fracture or a kidney stone. In patients without any symptoms, guidelines are used to identify who might benefit from parathyroid surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Primary Hyperparathyroidism ? ### Response: Eating, diet, and nutrition have not been shown to play a role in causing or preventing primary hyperparathyroidism. Vitamin D. Experts suggest correcting vitamin D deficiency in people with primary hyperparathyroidism to achieve a serum level of 25-hydroxy-vitamin D greater than 20 nanograms per deciliter (50 nanomoles per liter). " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Primary Hyperparathyroidism ? ### Response: - Primary hyperparathyroidism is a disorder of the parathyroid glands, in which one or more of the parathyroid glands are overactive. As a result, the gland releases too much parathyroid hormone (PTH). - High PTH levels trigger the bones to release increased calcium into the blood, causing blood calcium levels to rise above normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence in Men ? ### Response: Urinary incontinence is the loss of bladder control, resulting in the accidental leakage of urine from the body. For example, a man may feel a strong, sudden need, or urgency, to urinate just before losing a large amount of urine, called urgency incontinence. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence in Men ? ### Response: The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. In order for normal urination to occur, all parts in the urinary tract need to work together in the correct order. Kidneys. The kidneys are two bean-shaped organs, each about the size of a fist. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence in Men ? ### Response: The prostate is a walnut-shaped gland that is part of the male reproductive system. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue. Located in front of the rectum and just below the bladder, the prostate surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Incontinence in Men ? ### Response: Urinary incontinence in men results when the brain does not properly signal the bladder, the sphincters do not squeeze strongly enough, or both. The bladder muscle may contract too much or not enough because of a problem with the muscle itself or the nerves controlling the bladder muscle. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence in Men ? ### Response: The types of UI in men include - urgency incontinence - stress incontinence - functional incontinence - overflow incontinence - transient incontinence Urgency Incontinence Urgency incontinence happens when a man urinates involuntarily after he has a strong desire, or urgency, to urinate. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Urinary Incontinence in Men ? ### Response: Urinary incontinence occurs in 11 to 34 percent of older men. Two to 11 percent of older men report daily UI.1 Although more women than men develop UI, the chances of a man developing UI increase with age because he is more likely to develop prostate problems as he ages. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Incontinence in Men ? ### Response: Men should tell a health care professional, such as a family practice physician, a nurse, an internist, or a urologista doctor who specializes in urinary problemsthey have UI, even if they feel embarrassed. To diagnose UI, the health care professional will " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Incontinence in Men ? ### Response: Treatment depends on the type of UI. Urgency Incontinence As a first line of therapy for urgency incontinence, a health care professional may recommend the following techniques to treat a mans problem: - behavioral and lifestyle changes - bladder training - pelvic floor exercises - urgency suppression " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Incontinence in Men ? ### Response: People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health. Smoking increases a persons chance of developing stress incontinence, as it increases coughing. Some people say smoking worsens their bladder irritation. Smoking causes most cases of bladder cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Urinary Incontinence in Men ? ### Response: - Urinary incontinence (UI) is the loss of bladder control, resulting in the accidental leakage of urine from the body. - The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. - Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pregnancy and Thyroid Disease ? ### Response: Thyroid disease is a disorder that affects the thyroid gland. Sometimes the body produces too much or too little thyroid hormone. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Too much thyroid hormone is called hyperthyroidism and can cause many of the bodys functions to speed up. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pregnancy and Thyroid Disease ? ### Response: The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Pregnancy and Thyroid Disease ? ### Response: During pregnancy, the body requires higher amounts of some nutrients to support the health of the mother and growing baby. Experts recommend pregnant women maintain a balanced diet and take a prenatal multivitamin and mineral supplement containing iodine to receive most nutrients necessary for thyroid health. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Pregnancy and Thyroid Disease ? ### Response: - Thyroid disease is a disorder that results when the thyroid gland produces more or less thyroid hormone than the body needs. - Pregnancy causes normal changes in thyroid function but can also lead to thyroid disease. - Uncontrolled hyperthyroidism during pregnancy can lead to serious health problems in the mother and the unborn baby. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Henoch-Schnlein Purpura ? ### Response: Henoch-Schnlein purpura is a disease that causes small blood vessels in the body to become inflamed and leak. The primary symptom is a rash that looks like many small raised bruises. HSP can also affect the kidneys, digestive tract, and joints. HSP can occur any time in life, but it is most common in children between 2 and 6 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Henoch-Schnlein Purpura ? ### Response: Henoch-Schnlein purpura is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. Usually, the immune system makes antibodies, or proteins, to protect the body from foreign substances such as bacteria or viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Henoch-Schnlein Purpura ? ### Response: The symptoms of HSP include the following: - Rash. Leaking blood vessels in the skin cause a rash that looks like bruises or small red dots on the legs, arms, and buttocks. The rash may first look like hives and then change to look like bruises, and it may spread to the chest, back, and face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Henoch-Schnlein Purpura ? ### Response: In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP.1 Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Henoch-Schnlein Purpura ? ### Response: A diagnosis of HSP is suspected when a person has the characteristic rash and one of the following: - abdominal pain - joint pain - antibody deposits on the skin - hematuria or proteinuria Antibody deposits on the skin can confirm the diagnosis of HSP. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Henoch-Schnlein Purpura ? ### Response: No specific treatment for HSP exists. The main goal of treatment is to relieve symptoms such as joint pain, abdominal pain, and swelling. People with kidney involvement may receive treatment aimed at preventing long-term kidney disease. Treatment is rarely required for the rash. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Henoch-Schnlein Purpura ? ### Response: No specific treatment for HSP exists. The main goal of treatment is to relieve symptoms such as joint pain, abdominal pain, and swelling. People with kidney involvement may receive treatment aimed at preventing long-term kidney disease. Treatment is rarely required for the rash. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Henoch-Schnlein Purpura ? ### Response: - Henoch-Schnlein purpura (HSP) is a disease that causes small blood vessels in the body to become inflamed and leak. - HSP is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. The factors that cause this immune system response are not known. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glomerular Diseases ? ### Response: The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glomerular Diseases ? ### Response: The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glomerular Diseases ? ### Response: The signs and symptoms of glomerular disease include - albuminuria: large amounts of protein in the urine - hematuria: blood in the urine - reduced glomerular filtration rate: inefficient filtering of wastes from the blood - hypoproteinemia: low blood protein - edema: swelling in parts of the body " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Glomerular Diseases ? ### Response: Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as ""nephrotic range"" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Glomerular Diseases ? ### Response: Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as ""nephrotic range"" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glomerular Diseases ? ### Response: A number of different diseases can result in glomerular disease. It may be the direct result of an infection or a drug toxic to the kidneys, or it may result from a disease that affects the entire body, like diabetes or lupus. Many different kinds of diseases can cause swelling or scarring of the nephron or glomerulus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glomerular Diseases ? ### Response: A number of different diseases can result in glomerular disease. It may be the direct result of an infection or a drug toxic to the kidneys, or it may result from a disease that affects the entire body, like diabetes or lupus. Many different kinds of diseases can cause swelling or scarring of the nephron or glomerulus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glomerular Diseases ? ### Response: Renal failure is any acute or chronic loss of kidney function and is the term used when some kidney function remains. Total kidney failure, sometimes called end-stage renal disease (ESRD), indicates permanent loss of kidney function. Depending on the form of glomerular disease, renal function may be lost in a matter of days or weeks or may deteriorate slowly and gradually over the course of decades. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Glomerular Diseases ? ### Response: - The kidneys filter waste and extra fluid from the blood. - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules. - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Glomerular Diseases ? ### Response: - The kidneys filter waste and extra fluid from the blood. - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules. - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prolactinoma ? ### Response: A prolactinoma is a benign noncancerous tumor of the pituitary gland that produces a hormone called prolactin. Prolactinomas are the most common type of pituitary tumor. Symptoms of prolactinoma are caused by hyperprolactinemia --- too much prolactin in the blood --- or by pressure of the tumor on surrounding tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prolactinoma ? ### Response: The pituitary gland, sometimes called the master gland, plays a critical role in regulating growth and development, metabolism, and reproduction. It produces prolactin and other key hormones including - growth hormone, which regulates growth - adrenocorticotropin (ACTH), which stimulates the adrenal glands to produce cortisol, a hormone important in metabolism and the body's response to stress - thyrotropin, which signals the thyroid gland to produce thyroid hormone, also involved in metabolism and growth - luteinizing hormone and follicle-stimulating hormone, which regulate ovulation and estrogen and progesterone production in women and sperm formation and testosterone production in men " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prolactinoma ? ### Response: In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prolactinoma ? ### Response: In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prolactinoma ? ### Response: In some people, high blood levels of prolactin can be traced to causes other than prolactinoma. Prescription drugs. Prolactin secretion in the pituitary is normally suppressed by the brain chemical dopamine. Drugs that block the effects of dopamine at the pituitary or deplete dopamine stores in the brain may cause the pituitary to secrete prolactin. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prolactinoma ? ### Response: A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other conditions and medications known to raise prolactin secretion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prolactinoma ? ### Response: The goals of treatment are to return prolactin secretion to normal, reduce tumor size, correct any visual abnormalities, and restore normal pituitary function. In the case of large tumors, only partial achievement of these goals may be possible. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prolactinoma? ? ### Response: Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Perineal Injury in Males ? ### Response: Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as - bladder control problems - sexual problems Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the bladder is full. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Perineal Injury in Males ? ### Response: Common causes of acute perineal injury in males include - perineal surgery - straddle injuries - sexual abuse - impalement Perineal Surgery Acute perineal injury may result from surgical procedures that require an incision in the perineum: " "Below is an instruction from Human. Write a response. ### Instruction: What causes Perineal Injury in Males ? ### Response: Chronic perineal injury most often results from a job-or sport-related practicesuch as bike, motorcycle, or horseback ridingor a long-term condition such as chronic constipation. Bike Riding Sitting on a narrow, saddle-style bike seatwhich has a protruding nose in the frontplaces far more pressure on the perineum than sitting in a regular chair. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Perineal Injury in Males? ? ### Response: Men who have perineal surgery are most likely to have an acute perineal injury. Straddle injuries are most common among people who ride motorcycles, bikes, or horses and children who use playground equipment. Impalement injuries are most common in military personnel engaged in combat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Perineal Injury in Males ? ### Response: Treatments for perineal injury vary with the severity and type of injury. Tears or incisions may require stitches. Traumatic or piercing injuries may require surgery to repair damaged pelvic floor muscles, blood vessels, and nerves. Treatment for these acute injuries may also include antibiotics to prevent infection. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Perineal Injury in Males ? ### Response: Preventing perineal injury requires being aware of and taking steps to minimize the dangers of activities such as construction work or bike riding: - People should talk with their health care provider about the benefits and risks of perineal surgery well before the operation. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Perineal Injury in Males ? ### Response: To prevent constipation, a diet with 20 to 35 grams of fiber each day helps the body form soft, bulky stool that is easier to pass. High-fiber foods include beans, whole grains and bran cereals, fresh fruits, and vegetables such as asparagus, brussels sprouts, cabbage, and carrots. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Solitary Kidney ? ### Response: When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are - birth defects. People with kidney agenesis are born with only one kidney. People born with kidney dysplasia have both kidneys; however, one kidney does not function. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Solitary Kidney ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Solitary Kidney ? ### Response: People with a solitary kidney do not need to eat a special diet. However, people with reduced kidney function may need to make changes to their diet to slow the progression of kidney disease. More information about recommended dietary changes is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults, and on the National Kidney Disease Education Program website. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Solitary Kidney ? ### Response: - When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are birth defects, surgical removal of a kidney, and kidney donation. - In general, people with a solitary kidney lead full, healthy lives. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monitor Your Diabetes ? ### Response: Sometimes, no matter how hard you try to keep your blood glucose levels in your target range, they will be too high or too low. Blood glucose thats too high or too low can make you feel sick. If you try to control your high or low blood glucose and cant, you may become even sicker and need help. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Overview of Kidney Disease in Children ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Overview of Kidney Disease in Children ? ### Response: Kidney disease in children can be caused by - birth defects - hereditary diseases - infection - nephrotic syndrome - systemic diseases - trauma - urine blockage or reflux From birth to age 4, birth defects and hereditary diseases are the leading causes of kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Overview of Kidney Disease in Children ? ### Response: A health care provider diagnoses kidney disease in children by completing a physical exam, asking for a medical history, and reviewing signs and symptoms. To confirm diagnosis, the health care provider may order one or more of the following tests: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Overview of Kidney Disease in Children ? ### Response: Treatment for kidney disease in children depends on the cause of the illness. A child may be referred to a pediatric nephrologista doctor who specializes in treating kidney diseases and kidney failure in childrenfor treatment. Children with a kidney disease that is causing high blood pressure may need to take medications to lower their blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Overview of Kidney Disease in Children ? ### Response: For children with CKD, learning about nutrition is vital because their diet can affect how well their kidneys work. Parents or guardians should always consult with their childs health care team before making any dietary changes. Staying healthy with CKD requires paying close attention to the following elements of a diet: " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Overview of Kidney Disease in Children ? ### Response: - Kidney disease can affect children in various ways, ranging from treatable disorders without long-term consequences to life-threatening conditions. Acute kidney disease develops suddenly, lasts a short time, and can be serious with long-lasting consequences, or may go away completely once the underlying cause has been treated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Graves' Disease ? ### Response: Graves disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the United States. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. The Thyroid " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Graves' Disease ? ### Response: People with Graves disease may have common symptoms of hyperthyroidism such as - nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid and irregular heartbeat - frequent bowel movements or diarrhea - weight loss - goiter, which is an enlarged thyroid that may cause the neck to look swollen and can interfere with normal breathing and swallowing " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Graves' Disease ? ### Response: Graves ophthalmopathy is a condition associated with Graves disease that occurs when cells from the immune system attack the muscles and other tissues around the eyes. The result is inflammation and a buildup of tissue and fat behind the eye socket, causing the eyeballs to bulge out. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Graves' Disease ? ### Response: Health care providers can sometimes diagnose Graves disease based only on a physical examination and a medical history. Blood tests and other diagnostic tests, such as the following, then confirm the diagnosis. TSH test. The ultrasensitive TSH test is usually the first test performed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Graves' Disease ? ### Response: People with Graves disease have three treatment options: radioiodine therapy, medications, and thyroid surgery. Radioiodine therapy is the most common treatment for Graves disease in the United States. Graves disease is often diagnosed and treated by an endocrinologista doctor who specializes in the bodys hormone- secreting glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Graves' Disease ? ### Response: Treatment for Graves disease can sometimes affect pregnancy. After treatment with surgery or radioactive iodine, TSI antibodies can still be present in the blood, even when thyroid levels are normal. If a pregnant woman has received either of these treatments prior to becoming pregnant, the antibodies she produces may travel across the placenta to the babys bloodstream and stimulate the fetal thyroid. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Graves' Disease ? ### Response: Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library available at www.nutrition.gov. Dietary Supplements Iodine is an essential mineral for the thyroid. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Graves' Disease ? ### Response: - Graves disease is the most common cause of hyperthyroidism in the United States. - In Graves disease, the immune system stimulates the thyroid gland to make too much thyroid hormone. - Common symptoms of hyperthyroidism include nervousness or irritability, fatigue or muscle weakness, heat intolerance, trouble sleeping, hand tremors, rapid and irregular heartbeat, frequent bowel movements or diarrhea, weight loss, and goiter. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Kidney Disease ? ### Response: Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. Even when well controlled, diabetes can lead to chronic kidney disease (CKD) and kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Kidney Disease ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Kidney Disease ? ### Response: Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolism the way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic Kidney Disease ? ### Response: People with diabetic kidney disease do not have symptoms in the early stages. As kidney disease progresses, a person can develop edema, or swelling. Edema happens when the kidneys cannot get rid of the extra fluid and salt in the body. Edema can occur in the legs, feet, or ankles and less often in the hands or face. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diabetic Kidney Disease ? ### Response: A health care provider diagnoses diabetic kidney disease based on - a medical and family history - a physical exam - urine tests - a blood test Medical and Family History Taking a medical and family history is one of the first things a health care provider may do to help diagnose diabetic kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diabetic Kidney Disease ? ### Response: People with diabetes should get regular screenings for kidney disease. The National Kidney Disease Education Program recommends the following: - urine albumin-to-creatinine ratio measured at least once a year in all people with type 2 diabe " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diabetic Kidney Disease ? ### Response: People can prevent or slow the progression of diabetic kidney disease by - taking medications to control high blood pressure - managing blood glucose levels - making changes in their eating, diet, and nutrition - losing weight if they are overweight or obese - getting regular physical activity " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Kidney Disease ? ### Response: A health care provider may treat kidney failure due to diabetic kidney disease with dialysis or a kidney transplant. In some cases, people with diabetic kidney disease receive kidney and pancreas transplants. In most cases, people with diabetic kidney disease start dialysis earlier than people with kidney failure who do not have diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Kidney Disease ? ### Response: People with diabetes should work with their health care team to prevent or manage CKD through the following steps: - measure A1C levelsa blood test that provides information about a persons average blood glucose levels for the previous 3 mo " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diabetic Kidney Disease ? ### Response: - Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. - At the onset of diabetes, blood flow into the kidneys increases, which may strain the glomeruli and lessen their ability to filter blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Simple Kidney Cysts ? ### Response: Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. Simple kidney cysts are different from the cysts that develop when a person has polycystic kidney disease (PKD), which is a genetic disorder. Simple kidney cysts do not enlarge the kidneys, replace their normal structure, or cause reduced kidney function like cysts do in people with PKD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Simple Kidney Cysts ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to filter out about 1 to 2 quarts of urine, composed of waste products and extra water. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Simple Kidney Cysts ? ### Response: The cause of simple kidney cysts is not fully understood. Obstruction of tubulestiny structures within the kidneys that collect urineor deficiency of blood supply to the kidneys may play a role. Diverticulasacs that form on the tubulesmay detach and become simple kidney cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Simple Kidney Cysts ? ### Response: Simple kidney cysts usually do not cause symptoms or harm the kidneys. In some cases, however, pain can occur between the ribs and hips when cysts enlarge and press on other organs. Sometimes cysts become infected, causing fever, pain, and tenderness. Simple kidney cysts are not thought to affect kidney function, but one study found an association between the presence of cysts and reduced kidney function in hospitalized people younger than 60 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Simple Kidney Cysts ? ### Response: Most simple kidney cysts are found during imaging tests done for other reasons. When a cyst is found, the following imaging tests can be used to determine whether it is a simple kidney cyst or another, more serious condition. These imaging tests are performed at an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Simple Kidney Cysts ? ### Response: Treatment is not needed for simple kidney cysts that do not cause any symptoms. Simple kidney cysts may be monitored with periodic ultrasounds. Simple kidney cysts that are causing symptoms or blocking the flow of blood or urine through the kidney may need to be treated using a procedure called sclerotherapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Simple Kidney Cysts ? ### Response: Treatment is not needed for simple kidney cysts that do not cause any symptoms. Simple kidney cysts may be monitored with periodic ultrasounds. Simple kidney cysts that are causing symptoms or blocking the flow of blood or urine through the kidney may need to be treated using a procedure called sclerotherapy. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Simple Kidney Cysts ? ### Response: - Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. - Simple kidney cysts usually do not cause symptoms or harm the kidneys. - Most simple kidney cysts are found during imaging tests done for other reasons. - Treatment is not needed for simple kidney cysts that do not cause any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Bladder Control for Women ? ### Response: Not all bladder control problems are alike. Some problems are caused by weak muscles, while others are caused by damaged nerves. Sometimes the cause may be a medicine that dulls the nerves. To help solve your problem, your doctor or nurse will try to identify the type of incontinence you have. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Bladder Control for Women ? ### Response: Not all bladder control problems are alike. Some problems are caused by weak muscles, while others are caused by damaged nerves. Sometimes the cause may be a medicine that dulls the nerves. To help solve your problem, your doctor or nurse will try to identify the type of incontinence you have. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Bladder Control for Women ? ### Response: Talking about bladder control problems is not easy for some people. You may feel embarrassed to tell your doctor. But talking about the problem is the first step in finding an answer. Also, you can be sure your doctor has heard it all before. You will not shock or embarrass your doctor or nurse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Bladder Control for Women ? ### Response: Your doctor will likely offer several treatment choices. Some treatments are as simple as changing some daily habits. Other treatments require taking medicine or using a device. If nothing else seems to work, surgery may help a woman with stress incontinence regain her bladder control. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Failure and How Its Treated ? ### Response: You have two kidneys. The kidneys are shaped like beans. Each kidney is about the size of a fist. They are located just below your ribcage, one on each side of your spine. Your kidneys filter your blood. Each kidney is made of 1 million little filters. During every minute of every day, these filters take out waste materials that can hurt you. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Failure and How Its Treated ? ### Response: Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. Failing kidneys do a poor job of removing wastes and extra fluid from your blood. Wastes and extra fluid begin to build up. The buildup of wastes can make you sick. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Kidney Failure and How Its Treated ? ### Response: Diabetes and high blood pressure are the most common causes of kidney failure. Other factors include heart and blood vessel disease and a family history of kidney failure. African Americans, Hispanics/Latinos, and American Indians are more likely to have kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Kidney Failure and How Its Treated ? ### Response: Diabetes and high blood pressure are the most common causes of kidney failure. Other factors include heart and blood vessel disease and a family history of kidney failure. African Americans, Hispanics/Latinos, and American Indians are more likely to have kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Failure and How Its Treated ? ### Response: Hemodialysis is a treatment for kidney failure that is done in a center several times per week. Some people learn to do hemodialysis in their homes. Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. With hemodialysis, your blood is filtered outside of your body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Failure and How Its Treated ? ### Response: Peritoneal dialysis uses the lining of your belly to filter your blood inside your body. You can do peritoneal dialysis at home because it uses your body to filter. A doctor will place a soft tube called a catheter in your belly a few weeks before you start treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Failure and How Its Treated ? ### Response: A kidney transplant places a healthy kidney from another person into your body. The kidney may come from someone who has just died. Your doctor will place your name on a waiting list for a kidney. A family member or friend might be able to give you a kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Kidney Failure and How Its Treated ? ### Response: Conservative management means your doctors take care of you without dialysis or a transplant. The doctors may give you medicines that make you feel more comfortable. You can have conservative management in your home. You may want to go to a hospice, a special place where you receive nursing care. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Kidney Failure and How Its Treated ? ### Response: If you have kidney failure, learn about the treatments and think about which one best fits you. Talk with people who are on hemodialysis or peritoneal dialysis. Ask what is good and bad about each treatment. If you make a choice and find you dont like it, talk with your doctor about trying something else. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Kidney Failure and How Its Treated ? ### Response: Eating healthy foods can help you keep up your energy and strength. All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices. You should talk with your centers dietitian to make a meal plan. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Kidney Failure and How Its Treated ? ### Response: - Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. - The treatments for kidney failure are - hemodialysis - peritoneal dialysis - a kidney transplant - conservative management - Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peyronie's Disease ? ### Response: Peyronies disease is a disorder in which scar tissue, called a plaque, forms in the penisthe male organ used for urination and sex. The plaque builds up inside the tissues of a thick, elastic membrane called the tunica albuginea. The most common area for the plaque is on the top or bottom of the penis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Peyronie's Disease ? ### Response: Medical experts do not know the exact cause of Peyronies disease. Many believe that Peyronies disease may be the result of - acute injury to the penis - chronic, or repeated, injury to the penis - autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Peyronie's Disease ? ### Response: Researchers estimate that Peyronies disease may affect 1 to 23 percent of men between 40 and 70 years of age.1 However, the actual occurrence of Peyronies disease may be higher due to mens embarrassment and health care providers limited reporting.1 The disease is rare in young men, although it has been reported in men in their 30s. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peyronie's Disease ? ### Response: The signs and symptoms of Peyronies disease may include - hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - ED " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Peyronie's Disease ? ### Response: Complications of Peyronies disease may include - the inability to have sexual intercourse - ED - anxiety, or stress, about sexual abilities or the appearance of the penis - stress on a relationship with a sexual partner - problems fathe " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Peyronie's Disease ? ### Response: A urologist diagnoses Peyronies disease based on - a medical and family history - a physical exam - imaging tests Medical and Family History Taking a medical and family history is one of the first things a urologist may do to help diagnose Peyronies disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peyronie's Disease ? ### Response: A urologist may treat Peyronies disease with nonsurgical treatments or surgery. The goal of treatment is to reduce pain and restore and maintain the ability to have intercourse. Men with small plaques, minimal penile curvature, no pain, and satisfactory sexual function may not need treatment until symptoms get worse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peyronie's Disease ? ### Response: A urologist may treat Peyronies disease with nonsurgical treatments or surgery. The goal of treatment is to reduce pain and restore and maintain the ability to have intercourse. Men with small plaques, minimal penile curvature, no pain, and satisfactory sexual function may not need treatment until symptoms get worse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peyronie's Disease ? ### Response: A urologist may treat Peyronies disease with nonsurgical treatments or surgery. The goal of treatment is to reduce pain and restore and maintain the ability to have intercourse. Men with small plaques, minimal penile curvature, no pain, and satisfactory sexual function may not need treatment until symptoms get worse. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastritis ? ### Response: Gastritis is a condition in which the stomachliningknown as the mucosais inflamed, or swollen. The stomach lining contains glands that produce stomach acid and an enzyme called pepsin. The stomach acid breaks down food and pepsin digests protein. A thick layer of mucus coats the stomach lining and helps prevent the acidic digestive juice from dissolving the stomach tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gastritis ? ### Response: Common causes of gastritis include - Helicobacter pylori (H. pylori) infection - damage to the stomach lining, which leads to reactive gastritis - an autoimmune response H. pylori infection. H. pylori is a type of bacteriaorganisms that may cause an infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastritis ? ### Response: Some people who have gastritis have pain or discomfort in the upper part of the abdomenthe area between the chest and hips. However, many people with gastritis do not have any signs and symptoms. The relationship between gastritis and a person's symptoms is not clear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastritis ? ### Response: Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include - shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Gastritis ? ### Response: The complications of chronic gastritis may include - peptic ulcers. Peptic ulcers are sores involving the lining of the stomach or duodenum, the first part of the small intestine. NSAID use and H. pylori gastritis increase the chance of developing peptic ulcers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gastritis ? ### Response: A health care provider diagnoses gastritis based on the following: - medical history - physical exam - upper GI endoscopy - other tests Medical History Taking a medical history may help the health care provider diagnose gastritis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gastritis ? ### Response: Health care providers treat gastritis with medications to - reduce the amount of acid in the stomach - treat the underlying cause Reduce the Amount of Acid in the Stomach The stomach lining of a person with gastritis may have less protection from acidic digestive juice. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Gastritis ? ### Response: People may be able to reduce their chances of getting gastritis by preventing H. pylori infection. No one knows for sure how H. pylori infection spreads, so prevention is difficult. To help prevent infection, health care providers advise people to " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Gastritis ? ### Response: People may be able to reduce their chances of getting gastritis by preventing H. pylori infection. No one knows for sure how H. pylori infection spreads, so prevention is difficult. To help prevent infection, health care providers advise people to " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Gastritis ? ### Response: - Gastritis is a condition in which the stomach liningknown as the mucosais inflamed, or swollen. - Common causes of gastritis include Helicobacter pylori (H. pylori) infection, damage to the stomach lining, and an autoimmune response. - Some people who have gastritis have pain or discomfort in the upper part of the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple Endocrine Neoplasia Type 1 ? ### Response: MEN1 is an inherited disorder that causes tumors in the endocrine glands and the duodenum, the first part of the small intestine. MEN1 is sometimes called multiple endocrine adenomatosis or Wermer's syndrome, after one of the first doctors to recognize it. MEN1 is rare, occurring in about one in 30,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Multiple Endocrine Neoplasia Type 1 ? ### Response: - Multiple endocrine neoplasia type 1 (MEN1) is an inherited disorder that causes hormone-secreting tumors in the duodenum and the endocrine glands-most often the parathyroid, pancreas, and pituitary. - Overactive parathyroid glands can lead to tiredness, weakness, muscle or bone pain, constipation, indigestion, kidney stones, or thinning of bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Hepatitis ? ### Response: Autoimmune hepatitis is a chronicor long lastingdisease in which the body's immune system attacks the normal components, or cells, of the liver and causes inflammation and liver damage. The immune system normally protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Hepatitis ? ### Response: Autoimmune diseases are disorders in which the body's immune system attacks the body's own cells and organs with proteins called autoantibodies; this process is called autoimmunity. The body's immune system normally makes large numbers of proteins called antibodies to help the body fight off infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Hepatitis ? ### Response: Autoimmune diseases are disorders in which the body's immune system attacks the body's own cells and organs with proteins called autoantibodies; this process is called autoimmunity. The body's immune system normally makes large numbers of proteins called antibodies to help the body fight off infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Hepatitis ? ### Response: Autoimmune hepatitis is classified into several types. Type 1 autoimmune hepatitis is the most common form in North America. Type 1 can occur at any age; however, it most often starts in adolescence or young adulthood. About 70 percent of people with type 1 autoimmune hepatitis are female. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autoimmune Hepatitis ? ### Response: The most common symptoms of autoimmune hepatitis are - fatigue - joint pain - nausea - loss of appetite - pain or discomfort over the liver - skin rashes - dark yellow urine - light-colored stools - jaundice, or yellowing of the skin and whites of the eyes " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Autoimmune Hepatitis ? ### Response: A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, and a liver biopsy. A health care provider performs a physical exam and reviews the person's health history, including the use of alcohol and medications that can harm the liver. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Autoimmune Hepatitis ? ### Response: Treatment for autoimmune hepatitis includes medication to suppress, or slow down, an overactive immune system. Treatment may also include a liver transplant. Treatment works best when autoimmune hepatitis is diagnosed early. People with autoimmune hepatitis generally respond to standard treatment and the disease can be controlled in most cases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Hepatitis ? ### Response: People with autoimmune hepatitis and cirrhosis are at risk of developing liver cancer. A health care provider will monitor the person with a regular ultrasound examination of the liver. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Hepatitis ? ### Response: People with autoimmune hepatitis and cirrhosis are at risk of developing liver cancer. A health care provider will monitor the person with a regular ultrasound examination of the liver. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Autoimmune Hepatitis ? ### Response: - Autoimmune hepatitis is a chronicor long lastingdisease in which the body's immune system attacks the liver and causes inflammation and damage. - Autoimmune hepatitis is a serious condition that may worsen over time if not treated. Autoimmune hepatitis can lead to cirrhosis and liver failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dumping Syndrome ? ### Response: Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. Dumping syndrome has two forms, based on when symptoms occur: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dumping Syndrome ? ### Response: The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening where stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dumping Syndrome ? ### Response: Dumping syndrome is caused by problems with the storage of food particles in the stomach and emptying of particles into the duodenum. Early dumping syndrome results from rapid movement of fluid into the intestine following a sudden addition of a large amount of food from the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dumping Syndrome ? ### Response: The symptoms of early and late dumping syndrome are different and vary from person to person. Early dumping syndrome symptoms may include - nausea - vomiting - abdominal pain and cramping - diarrhea - feeling uncomfortably full or bloated after a meal - sweating - weakness - dizziness - flushing, or blushing of the face or skin - rapid or irregular heartbeat " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dumping Syndrome ? ### Response: A health care provider will diagnose dumping syndrome primarily on the basis of symptoms. A scoring system helps differentiate dumping syndrome from other GI problems. The scoring system assigns points to each symptom and the total points result in a score. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dumping Syndrome ? ### Response: A health care provider will diagnose dumping syndrome primarily on the basis of symptoms. A scoring system helps differentiate dumping syndrome from other GI problems. The scoring system assigns points to each symptom and the total points result in a score. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Dysplasia ? ### Response: Kidney dysplasia is a condition in which the internal structures of one or both of a fetus kidneys do not develop normally while in the womb. During normal development, two thin tubes of muscle called ureters grow into the kidneys and branch out to form a network of tiny structures called tubules. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Dysplasia ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, which is composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kidney Dysplasia ? ### Response: Genetic factors can cause kidney dysplasia. Genes pass information from both parents to the child and determine the childs traits. Sometimes, parents may pass a gene that has changed, or mutated, causing kidney dysplasia. Genetic syndromes that affect multiple body systems can also cause kidney dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Kidney Dysplasia ? ### Response: Kidney dysplasia is a common condition. Scientists estimate that kidney dysplasia affects about one in 4,000 babies.1 This estimate may be low because some people with kidney dysplasia are never diagnosed with the condition. About half of the babies diagnosed with this condition have other urinary tract defects. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Kidney Dysplasia ? ### Response: Kidney dysplasia is a common condition. Scientists estimate that kidney dysplasia affects about one in 4,000 babies.1 This estimate may be low because some people with kidney dysplasia are never diagnosed with the condition. About half of the babies diagnosed with this condition have other urinary tract defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Kidney Dysplasia ? ### Response: The complications of kidney dysplasia can include - hydronephrosis of the working kidney. A baby with kidney dysplasia in only one kidney might have other urinary tract defects. When other defects in the urinary tract block the flow of urine, the urine backs up and causes the kidneys and ureters to swell, a condition called hydronephrosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kidney Dysplasia ? ### Response: Health care providers may be able to diagnose kidney dysplasia during a womans pregnancy using a fetal ultrasound, also called a fetal sonogram. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Dysplasia ? ### Response: If the condition is limited to one kidney and the baby has no signs of kidney dysplasia, no treatment may be necessary. However, the baby should have regular checkups that include - checking blood pressure. - testing blood to measure kidney function. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Kidney Dysplasia ? ### Response: Researchers have not found a way to prevent kidney dysplasia caused by genetic factors or certain genetic syndromes. Pregnant women can prevent kidney dysplasia by avoiding the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care provider before taking any medications during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Kidney Dysplasia ? ### Response: The long-term outlook for a child with kidney dysplasia in only one kidney is generally good. A person with one working kidney, a condition called solitary kidney, can grow normally and may have few, if any, health problems. The affected kidney may shrink as the child grows. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Kidney Dysplasia ? ### Response: The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys - is more likely to develop CKD. - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Kidney Dysplasia ? ### Response: The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys - is more likely to develop CKD. - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Dysplasia ? ### Response: - Kidney dysplasia is a condition in which the internal structures of one or both of a fetus kidneys do not develop normally while in the womb. - Genetic factors can cause kidney dysplasia. - Genetic syndromes that affect multiple body systems can also cause kidney dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Stones ? ### Response: A kidney* stone is a solid piece of material that forms in a kidney when there are high levels of certain substances in the urine. These substances are normally found in the urine and do not cause problems at lower levels. A stone may stay in the kidney or travel down the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Stones ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Kidney Stones ? ### Response: Doctors have found four main types of kidney stones: - The most common types of stones contain calcium. Calcium is a normal part of a healthy diet. Calcium that is not used by the bones and muscles goes to the kidneys. In most people, the kidneys flush out the extra calcium with the rest of the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Kidney Stones ? ### Response: You may have a kidney stone if you - have pain while urinating - see blood in your urine - feel a sharp pain in your back or lower abdomenthe area between your chest and hips The pain may last for a short or long time. You may have nausea and vomiting with the pain. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Kidney Stones ? ### Response: To diagnose kidney stones, your doctor will do a physical exam and ask about your medical history. The doctor may ask if you have a family history of kidney stones and about your diet, digestive problems, and other health problems. The doctor may perform urine, blood, and imaging tests to complete the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Kidney Stones ? ### Response: The treatment for kidney stones usually depends on their size and what they are made of. Kidney stones may be treated by your regular doctor or by a urologista doctor who specializes in the urinary tract. You may need treatment if you have symptoms or if a kidney stone is blocking your urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about Kidney Stones ? ### Response: To prevent kidney stones, you need to know what caused your kidney stone. Your doctor may ask you to try to catch the kidney stone as it passes in your urine. The kidney stone can then be sent to a lab to find out what type of stone it is. If you have treatment in the hospital and the doctor removes the stone, it will also be sent to a lab for testing. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Kidney Stones ? ### Response: You can help prevent kidney stones by making changes in how much you consume of the following: - fluids - sodium - animal protein - calcium - oxalate Drinking enough fluids each day is the best way to help prevent most types of kidney stones. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Kidney Stones ? ### Response: - A kidney stone is a solid piece of material that forms in a kidney when there are high levels of certain substances in the urine. These substances are normally found in the urine and do not cause problems at lower levels. - Kidney stones are caused by high levels of calcium, oxalate, and phosphorus in the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porphyria ? ### Response: Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porphyria ? ### Response: Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porphyria ? ### Response: Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences: - Acute porphyrias affect the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porphyria ? ### Response: Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences: - Acute porphyrias affect the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porphyria ? ### Response: Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include - oversensitivity to sunlight - blisters on exposed areas of the skin - itching and swelling on exposed areas of the skin " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Porphyria ? ### Response: A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care providers office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Porphyria ? ### Response: Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms. Acute Porphyrias A health care provider treats acute porphyrias with heme or glucose loading to decrease the livers production of porphyrins and porphyrin precursors. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Porphyria ? ### Response: People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Porphyria ? ### Response: - Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. - Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. - The exact rates of porphyria are unknown and vary around the world. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Causes of Diabetes ? ### Response: Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolismthe way the body uses digested food for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Insulin Resistance and Beta Cell Dysfunction Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Causes of Diabetes ? ### Response: Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Causes of Diabetes ? ### Response: - Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes, Heart Disease, and Stroke ? ### Response: Diabetes is a disorder of metabolismthe way our bodies use digested food for energy. Most of the food we eat is broken down into glucose, the form of sugar in the blood. Glucose is the body's main source of fuel. After digestion, glucose enters the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes, Heart Disease, and Stroke ? ### Response: Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes, Heart Disease, and Stroke ? ### Response: If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your chance of having a heart attack is as high as someone without diabetes who has already had one heart attack. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes, Heart Disease, and Stroke ? ### Response: If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your chance of having a heart attack is as high as someone without diabetes who has already had one heart attack. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Diabetes, Heart Disease, and Stroke? ? ### Response: Diabetes itself is a risk factor for heart disease and stroke. Also, many people with diabetes have other conditions that increase their chance of developing heart disease and stroke. These conditions are called risk factors. One risk factor for heart disease and stroke is having a family history of heart disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes, Heart Disease, and Stroke ? ### Response: Metabolic syndrome is a grouping of traits and medical conditions that puts people at risk for both heart disease and type 2 diabetes. It is defined by the National Cholesterol Education Program as having any three of the following five traits and medical conditions: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diabetes, Heart Disease, and Stroke ? ### Response: Even if you are at high risk for heart disease and stroke, you can help keep your heart and blood vessels healthy. You can do so by taking the following steps: - Make sure that your diet is ""heart-healthy."" Meet with a registered dietitian to plan a diet that meets these goals: - Include at least 14 grams of fiber daily for every 1,000 calories consumed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes, Heart Disease, and Stroke ? ### Response: You can keep track of the ABCs of diabetes to make sure your treatment is working. Talk with your health care provider about the best targets for you. A stands for A1C (a test that measures blood glucose control). Have an A1C test at least twice a year. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes, Heart Disease, and Stroke ? ### Response: Two major types of heart and blood vessel disease, also called cardiovascular disease, are common in people with diabetes: coronary artery disease (CAD) and cerebral vascular disease. People with diabetes are also at risk for heart failure. Narrowing or blockage of the blood vessels in the legs, a condition called peripheral arterial disease, can also occur in people with diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes, Heart Disease, and Stroke ? ### Response: Treatment for heart disease includes meal planning to ensure a heart-healthy diet and physical activity. In addition, you may need medications to treat heart damage or to lower your blood glucose, blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes, Heart Disease, and Stroke ? ### Response: At the first sign of a stroke, you should get medical care right away. If blood vessels to your brain are blocked by blood clots, the doctor can give you a ""clot-busting"" drug. The drug must be given soon after a stroke to be effective. Subsequent treatment for stroke includes medications and physical therapy, as well as surgery to repair the damage. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diabetes, Heart Disease, and Stroke ? ### Response: - If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diabetes, Heart Disease, and Stroke ? ### Response: - If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diarrhea ? ### Response: Diarrhea is loose, watery stools. Having diarrhea means passing loose stools three or more times a day. Acute diarrhea is a common problem that usually lasts 1 or 2 days and goes away on its own. Diarrhea lasting more than 2 days may be a sign of a more serious problem. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diarrhea ? ### Response: Acute diarrhea is usually caused by a bacterial, viral, or parasitic infection. Chronic diarrhea is usually related to a functional disorder such as irritable bowel syndrome or an intestinal disease such as Crohns disease. The most common causes of diarrhea include the following: " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diarrhea ? ### Response: Diarrhea may be accompanied by cramping, abdominal pain, nausea, an urgent need to use the bathroom, or loss of bowel control. Some infections that cause diarrhea can also cause a fever and chills or bloody stools. Dehydration " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diarrhea ? ### Response: If acute diarrhea lasts 2 days or less, diagnostic tests are usually not necessary. If diarrhea lasts longer or is accompanied by symptoms such as fever or bloody stools, a doctor may perform tests to determine the cause. Diagnostic tests to find the cause of diarrhea may include the following: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diarrhea ? ### Response: In most cases of diarrhea, the only treatment necessary is replacing lost fluids and electrolytes to prevent dehydration. Over-the-counter medicines such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diarrhea ? ### Response: Until diarrhea subsides, avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen symptoms. These foods can aggravate diarrhea. Some people also have problems digesting lactose during or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diarrhea ? ### Response: Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea. Rotavirus Diarrhea Two oral vaccines have been approved by the U.S. Food and Drug Administration to protect children from rotavirus infections: rotavirus vaccine, live, oral, pentavalent (RotaTeq); and rotavirus vaccine, live, oral (Rotarix). " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diarrhea ? ### Response: - Diarrhea is loose, watery stools. Having diarrhea means passing loose stools three or more times a day. - Diarrhea is a common problem that usually goes away on its own. - The most common causes of diarrhea include bacterial, viral, and parasitic infections; functional bowel disorders; intestinal diseases; food intolerances and sensitivities; and reactions to medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Preparing for Pregnancy if I Have Diabetes ? ### Response: If you have diabetes,* the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. Blood glucose targets are different for women who are trying to get pregnant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Biliary Atresia ? ### Response: Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. Bile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Biliary Atresia ? ### Response: Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. Bile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Biliary Atresia ? ### Response: The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Jaundice occurs when the liver does not remove bilirubin, a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich protein that gives blood its red color. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Biliary Atresia ? ### Response: Biliary atresia likely has multiple causes, though none are yet proven. Biliary atresia is not an inherited disease, meaning it does not pass from parent to child. Therefore, survivors of biliary atresia are not at risk for passing the disorder to their children. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Biliary Atresia ? ### Response: No single test can definitively diagnose biliary atresia, so a series of tests is needed. All infants who still have jaundice 2 to 3 weeks after birth, or who have gray or white stools after 2 weeks of birth, should be checked for liver damage.2 " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Biliary Atresia ? ### Response: Biliary atresia is treated with surgery, called the Kasai procedure, or a liver transplant. Kasai Procedure The Kasai procedure, named after the surgeon who invented the operation, is usually the first treatment for biliary atresia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Biliary Atresia ? ### Response: After the Kasai procedure, some infants continue to have liver problems and, even with the return of bile flow, some infants develop cirrhosis. Possible complications after the Kasai procedure include ascites, bacterial cholangitis, portal hypertension, and pruritus. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Biliary Atresia ? ### Response: Infants with biliary atresia often have nutritional deficiencies and require special diets as they grow up. They may need a higher calorie diet, because biliary atresia leads to a faster metabolism. The disease also prevents them from digesting fats and can lead to protein and vitamin deficiencies. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Biliary Atresia ? ### Response: - Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. - The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Other symptoms include dark urine, gray or white stools, and slow weight gain and growth. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Biliary Atresia ? ### Response: - Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. - The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Other symptoms include dark urine, gray or white stools, and slow weight gain and growth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyelonephritis: Kidney Infection ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pyelonephritis: Kidney Infection ? ### Response: Pyelonephritis is caused by a bacterium or virus infecting the kidneys. Though many bacteria and viruses can cause pyelonephritis, the bacterium Escherichia coli is often the cause. Bacteria and viruses can move to the kidneys from the bladder or can be carried through the bloodstream from other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyelonephritis: Kidney Infection ? ### Response: Symptoms of pyelonephritis can vary depending on a persons age and may include the following: - fever - vomiting - back, side, and groin pain - chills - nausea - frequent, painful urination Children younger than 2 years old may only have a high fever without symptoms related to the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Pyelonephritis: Kidney Infection ? ### Response: Most people with pyelonephritis do not have complications if appropriately treated with bacteria-fighting medications called antibiotics. In rare cases, pyelonephritis may cause permanent kidney scars, which can lead to chronic kidney disease, high blood pressure, and kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pyelonephritis: Kidney Infection ? ### Response: The tests used to diagnose pyelonephritis depend on the patients age, gender, and response to treatment and include the following: - Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyelonephritis: Kidney Infection ? ### Response: Pyelonephritis is treated with antibiotics, which may need to be taken for several weeks. While a urine sample is sent to a lab for culture, the health care provider may begin treatment with an antibiotic that fights the most common types of bacteria. Once culture results are known and the bacteria is clearly identified, the health care provider may switch the antibiotic to one that more effectively targets the bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyelonephritis: Kidney Infection ? ### Response: Pyelonephritis is treated with antibiotics, which may need to be taken for several weeks. While a urine sample is sent to a lab for culture, the health care provider may begin treatment with an antibiotic that fights the most common types of bacteria. Once culture results are known and the bacteria is clearly identified, the health care provider may switch the antibiotic to one that more effectively targets the bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Pyelonephritis: Kidney Infection ? ### Response: - Pyelonephritis is a type of urinary tract infection that affects one or both kidneys. - Pyelonephritis is caused by a bacterium or virus infecting the kidneys. Though many bacteria and viruses can cause pyelonephritis, the bacterium Escherichia coli is often the cause. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Sclerosing Cholangitis ? ### Response: PSC is a disease that damages and blocks bile ducts inside and outside the liver. Bile is a liquid made in the liver. Bile ducts are tubes that carry bile out of the liver to the gallbladder and small intestine. In the intestine, bile helps break down fat in food. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Sclerosing Cholangitis ? ### Response: The causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Sclerosing Cholangitis ? ### Response: The causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Sclerosing Cholangitis ? ### Response: The causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Sclerosing Cholangitis ? ### Response: The causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary Sclerosing Cholangitis ? ### Response: Blood tests to check levels of liver enzymes are the first step in diagnosing PSC. Doctors confirm the diagnosis using cholangiography, which provides pictures of the bile ducts. Cholangiography can be performed in the following ways: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Sclerosing Cholangitis ? ### Response: Although researchers have studied many treatments, none has been shown to cure or slow the progress of PSC. Treatment of PSC aims to relieve symptoms and manage complications. Medical treatment may include various medications to relieve itching, antibiotics to treat infections, and vitamin supplements. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Primary Sclerosing Cholangitis ? ### Response: - Primary sclerosing cholangitis (PSC) inflames, scars, and blocks bile ducts inside and outside the liver. - When bile ducts become blocked, bile builds up in the liver and damages liver cells. - PSC can lead to vitamin deficiencies, infections, bile duct cancer, cirrhosis, liver failure, and the need for a liver transplant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: You already know you need to watch how much you drink. Any food that is liquid at room temperature also contains water. These foods include soup, Jell-O, and ice cream. Many fruits and vegetables contain lots of water, too. They include melons, grapes, apples, oranges, tomatoes, lettuce, and celery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: You already know you need to watch how much you drink. Any food that is liquid at room temperature also contains water. These foods include soup, Jell-O, and ice cream. Many fruits and vegetables contain lots of water, too. They include melons, grapes, apples, oranges, tomatoes, lettuce, and celery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Potassium is a mineral found in many foods, especially milk, fruits, and vegetables. It affects how steadily your heart beats. Healthy kidneys keep the right amount of potassium in the blood to keep the heart beating at a steady pace. Potassium levels can rise between dialysis sessions and affect your heartbeat. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Potassium is a mineral found in many foods, especially milk, fruits, and vegetables. It affects how steadily your heart beats. Healthy kidneys keep the right amount of potassium in the blood to keep the heart beating at a steady pace. Potassium levels can rise between dialysis sessions and affect your heartbeat. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Phosphorus is a mineral found in many foods. If you have too much phosphorus in your blood, it pulls calcium from your bones. Losing calcium will make your bones weak and likely to break. Also, too much phosphorus may make your skin itch. Foods like milk and cheese, dried beans, peas, colas, nuts, and peanut butter are high in phosphorus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Phosphorus is a mineral found in many foods. If you have too much phosphorus in your blood, it pulls calcium from your bones. Losing calcium will make your bones weak and likely to break. Also, too much phosphorus may make your skin itch. Foods like milk and cheese, dried beans, peas, colas, nuts, and peanut butter are high in phosphorus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. Some people on dialysis need to gain weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. Some people on dialysis need to gain weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? ### Response: Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. Some people on dialysis need to gain weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ectopic Kidney ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ectopic Kidney ? ### Response: During fetal development, a babys kidneys first appear as buds inside the pelvisthe bowl-shaped bone that supports the spine and holds up the digestive, urinary, and reproductive organsnear the bladder. As the kidneys develop, they move gradually toward their usual position in the back near the rib cage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectopic Kidney ? ### Response: An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. Many people have an ectopic kidney and do not discover it until they have tests done for other reasons. Sometimes, a health care provider may discover an ectopic kidney after feeling a lump in the abdomen during an examination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Ectopic Kidney ? ### Response: Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Sometimes, urine can even flow backwards from the bladder to the kidney, a problem called vesicoureteral reflux (VUR). More information about VUR is provided in the NIDDK health topic, Vesicoureteral Reflux. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ectopic Kidney ? ### Response: A health care provider may use one or more of the following imaging tests to diagnose an ectopic kidney: - Ultrasound. An ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ectopic Kidney ? ### Response: No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. If tests show an obstruction, surgery may be needed to correct the position of the kidney to allow for better drainage of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ectopic Kidney ? ### Response: No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. If tests show an obstruction, surgery may be needed to correct the position of the kidney to allow for better drainage of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Viral Gastroenteritis ? ### Response: Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. Viral gastroenteritis causes millions of cases of diarrhea each year. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Viral Gastroenteritis ? ### Response: The main symptoms of viral gastroenteritis are - watery diarrhea - vomiting Other symptoms include - headache - fever - chills - abdominal pain Symptoms usually appear within 12 to 48 hours after exposure to a gastroenteritis-causing virus and last for 1 to 3 days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Viral Gastroenteritis ? ### Response: Dehydration is the most common complication of viral gastroenteritis. When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. When dehydrated, the body does not have enough fluids to keep the proper balance of important salts or minerals, known as electrolytes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Viral Gastroenteritis ? ### Response: Four types of viruses cause most cases of viral gastroenteritis. Rotavirus Rotavirus is the leading cause of gastroenteritis among infants and young children. Rotavirus infections are most common in infants 3 to 15 months old. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Viral Gastroenteritis ? ### Response: Viral gastroenteritis is usually diagnosed based on symptoms alone. People who have symptoms that are severe or last for more than a few days may want to see a health care provider for additional tests. A health care provider may ask for a stool sample to test for rotavirus or norovirus or to rule out bacteria or parasites as the cause of the gastroenteritis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Viral Gastroenteritis ? ### Response: Most cases of viral gastroenteritis resolve over time without specific treatment. Antibiotics are not effective against viral infections. The primary goal of treatment is to reduce symptoms and prevent complications. Over-the-counter medicines such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol) can help relieve symptoms in adults. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Viral Gastroenteritis ? ### Response: People can reduce their chances of getting or spreading viral gastroenteritis if they - wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food - disinfect contaminated surfaces such as countertops and baby changing tables with a mixture of 2 cups of household bleach and 1 gallon of water - avoid foods and drinks that might be contaminated " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Viral Gastroenteritis ? ### Response: - Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. - The main symptoms of viral gastroenteritis are watery diarrhea and vomiting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Early Chronic Kidney Disease in Adults ? ### Response: CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Nutrition for Early Chronic Kidney Disease in Adults? ? ### Response: Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both. High blood glucose levels put people with diabetes at risk for heart disease, stroke, amputation, and eye and kidney problems. People with high blood pressure are at risk for damaged blood vessels, including tiny vessels in the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Early Chronic Kidney Disease in Adults ? ### Response: People with either type 1 or type 2 diabetes must choose foods carefully to control their blood glucose, the bodys main source of energy. Following a meal plan to keep blood glucose at a healthy level may prevent CKD from developing. People with diabetes should talk with their health care provider about setting goals for maintaining healthy blood glucose levels and about how often to check their blood glucose level. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Early Chronic Kidney Disease in Adults ? ### Response: As blood pressure rises, the risk of damage to the arteries, heart, brain, and kidneys increases. Controlling blood pressure through healthy food choices and regular physical activity can delay or prevent the development of CKD. Blood pressure is expressed as two numbers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nutrition for Early Chronic Kidney Disease in Adults ? ### Response: MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A doctor may refer a patient to a registered dietitian to help with the patients food plan. Many insurance policies cover MNT when recommended by a doctor. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Nutrition for Early Chronic Kidney Disease in Adults ? ### Response: - Controlling blood glucose and blood pressure through healthy food choices is an important step toward slowing or stopping the progression of chronic kidney disease (CKD). - The kidneys remove wastes and extra water from the blood and make urine. - Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Gas ? ### Response: Gas is air in the digestive tract. Gas leaves the body when people burp through the mouth or pass gas through the anus*the opening at the end of the digestive tract where stool leaves the body. Everyone has gas. Burping and passing gas are normal. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Gas ? ### Response: Gas in the digestive tract is usually caused by swallowing air and the breakdown of certain foods in the large intestine. *See the Pronunciation Guide for tips on how to say the underlined words. You typically swallow a small amount of air when you eat and drink. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Gas ? ### Response: Most foods that contain carbohydrates can cause gas. Foods that cause gas for one person may not cause gas for someone else. Some foods that contain carbohydrates and may cause gas are - beans - vegetables such as broccoli, cauliflower, ca " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Gas ? ### Response: The most common symptoms of gas are: - Burping. Burping once in awhile, especially during and after meals, is normal. If you burp very often, you may be swallowing too much air. Some people with digestive problems swallow air on purpose and burp because they believe it will help them feel better. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Gas ? ### Response: You can try to find the cause of gas by keeping a diary of what you eat and drink and how often you burp, pass gas, or have other symptoms. The diary may help you identify the foods that cause you to have gas. Talk with your health care provider if " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Gas ? ### Response: You can try to treat gas on your own, before seeing your health care provider, if you think you have too much. Swallowing less air and changing what you eat can help prevent or reduce gas. Try the following tips: - Eat more slowly. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Gas ? ### Response: Your eating habits and diet affect the amount of gas you have. For example, eating and drinking too fast can cause you to swallow more air. And you may have more gas after you eat certain carbohydrates. Track what you eat and your gas symptoms to find out what foods cause you to have more gas. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Gas ? ### Response: - Gas is air in the digestive tract. - Everyone has gas. Burping and passing gas are normal. - Gas in the digestive tract is usually caused by swallowing air and the breakdown of certain foods in the large intestine. - Most foods that contain carbohydrates can cause gas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemorrhoids ? ### Response: Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. The rectum is the last part of the large intestine leading to the anus. The anus is the opening at the end of the digestive tract where bowel contents leave the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemorrhoids ? ### Response: The most common symptom of internal hemorrhoids is bright red blood on stool, on toilet paper, or in the toilet bowl after a bowel movement. Internal hemorrhoids that are not prolapsed are usually not painful. Prolapsed hemorrhoids often cause pain, discomfort, and anal itching. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemorrhoids ? ### Response: The most common symptom of internal hemorrhoids is bright red blood on stool, on toilet paper, or in the toilet bowl after a bowel movement. Internal hemorrhoids that are not prolapsed are usually not painful. Prolapsed hemorrhoids often cause pain, discomfort, and anal itching. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemorrhoids ? ### Response: Swelling in the anal or rectal veins causes hemorrhoids. Several factors may cause this swelling, including - chronic constipation or diarrhea - straining during bowel movements - sitting on the toilet for long periods of time - a lack of fiber in the diet " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemorrhoids ? ### Response: The doctor will examine the anus and rectum to determine whether a person has hemorrhoids. Hemorrhoid symptoms are similar to the symptoms of other anorectal problems, such as fissures, abscesses, warts, and polyps. The doctor will perform a physical exam to look for visible hemorrhoids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemorrhoids ? ### Response: At-home Treatments Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. Eating a high-fiber diet can make stools softer and easier to pass, reducing the pressure on hemorrhoids caused by straining. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hemorrhoids ? ### Response: - Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. - Hemorrhoids are not dangerous or life threatening, and symptoms usually go away within a few days. - A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Growth Failure in Children with Chronic Kidney Disease ? ### Response: Growth failure is a complication of CKD in which children do not grow as expected. When a child is below the third percentilemeaning 97 percent of children the same age and gender are tallerhe or she has growth failure.1 CKD is kidney disease that does not go away with treatment and tends to get worse over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Growth Failure in Children with Chronic Kidney Disease ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Growth Failure in Children with Chronic Kidney Disease ? ### Response: Researchers have found that many factors cause growth failure in children with CKD. In addition to removing wastes and extra fluid from the blood, the kidneys perform important functions for a childs growth. Understanding normal kidney function and growth helps families understand what causes growth failure in children with CKD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Growth Failure in Children with Chronic Kidney Disease ? ### Response: Health care providers treat growth failure in children with CKD with - changes in eating, diet, and nutrition - medications - growth hormone therapy Most children with growth failure grow to about one-third of their adult height within the first two years of life; therefore, it is important to start treatment for growth failure early. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Growth Failure in Children with Chronic Kidney Disease ? ### Response: Children with CKD may lose their appetite or lack the energy to eat. To treat growth failure in children, a health care provider may recommend dietary changes, such as - adding calcium. Children with CKD should get the recommended level of calcium for their age from their diet or from calcium supplements. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Growth Failure in Children with Chronic Kidney Disease ? ### Response: - Growth failure is a complication of chronic kidney disease (CKD) in which children do not grow as expected. - Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. - Researchers have found that many factors cause growth failure in children with CKD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: Mineral and bone disorder in CKD occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: Chronic kidney disease is kidney damage that occurs slowly over many years, often due to diabetes or high blood pressure. Once damaged, the kidneys cant filter blood as they should. This damage can cause wastes to build up in the body and other problems that can harm a persons health, including mineral and bone disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys - stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: In adults, symptoms of mineral and bone disorder in CKD may not appear until bone changes have taken place for many years. For this reason, people often refer to the disease as a silent crippler. Eventually, a person with the condition may begin to feel bone and joint pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems. Slowed Bone Growth and Deformities Damaged kidneys must work harder to clear phosphorus from the body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: A health care provider diagnoses mineral and bone disorder in CKD with - a family and medical history - a physical exam - a blood test - a bone biopsy - an x-ray Family and Medical History Taking a medical and family history is one of the first things a health care provider may do to help diagnose mineral and bone disorder in CKD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: Treating mineral and bone disorder in CKD includes preventing damage to bones by controlling parathyroid hormone levels through changes in eating, diet, and nutrition; medications and supplements; and dialysis. If these treatments do not bring parathyroid hormone levels under control, a health care provider may remove a persons parathyroid glands surgically, a procedure called a parathyroidectomy. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Mineral and Bone Disorder in Chronic Kidney Disease ? ### Response: - Mineral and bone disorder in chronic kidney disease (CKD) occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zollinger-Ellison Syndrome ? ### Response: Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. The tumors, called gastrinomas, release large amounts of gastrin that cause the stomach to produce large amounts of acid. Normally, the body releases small amounts of gastrin after eating, which triggers the stomach to make gastric acid that helps break down food and liquid in the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zollinger-Ellison Syndrome ? ### Response: The stomach, duodenum, and pancreas are digestive organs that break down food and liquid. - The stomach stores swallowed food and liquid. The muscle action of the lower part of the stomach mixes the food and liquid with digestive juice. Partially digested food and liquid slowly move into the duodenum and are further broken down. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Zollinger-Ellison Syndrome ? ### Response: Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1).1 MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Zollinger-Ellison Syndrome ? ### Response: Zollinger-Ellison syndrome is rare and only occurs in about one in every 1 million people.1 Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. A child who has a parent with MEN1 is also at increased risk for Zollinger-Ellison syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Zollinger-Ellison Syndrome ? ### Response: A person who has any of the following emergency symptoms should call or see a health care provider right away: - chest pain - sharp, sudden, persistent, and severe stomach pain - red blood in stool or black stools - red blood in vomit or vomit that looks like coffee grounds " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Zollinger-Ellison Syndrome ? ### Response: A health care provider diagnoses Zollinger-Ellison syndrome based on the following: - medical history - physical exam - signs and symptoms - blood tests - upper gastrointestinal (GI) endoscopy - imaging tests to look for gastrinomas - measurement of stomach acid " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Zollinger-Ellison Syndrome ? ### Response: A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Zollinger-Ellison Syndrome ? ### Response: A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Zollinger-Ellison Syndrome ? ### Response: - Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. - Experts do not know the exact cause of Zollinger-Ellison syndrome. - About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemolytic Uremic Syndrome in Children ? ### Response: Hemolytic uremic syndrome, or HUS, is a kidney condition that happens when red blood cells are destroyed and block the kidneys' filtering system. Red blood cells contain hemoglobinan iron-rich protein that gives blood its red color and carries oxygen from the lungs to all parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemolytic Uremic Syndrome in Children ? ### Response: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemolytic Uremic Syndrome in Children ? ### Response: The most common cause of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. The digestive system is made up of the gastrointestinal, or GI, tracta series of hollow organs joined in a long, twisting tube from the mouth to the anusand other organs that help the body break down and absorb food. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemolytic Uremic Syndrome in Children ? ### Response: A child with hemolytic uremic syndrome may develop signs and symptoms similar to those seen with gastroenteritisan inflammation of the lining of the stomach, small intestine, and large intestine such as - vomiting - bloody diarrhea - abdominal pain - fever and chills - headache " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemolytic Uremic Syndrome in Children ? ### Response: A health care provider diagnoses hemolytic uremic syndrome with - a medical and family history - a physical exam - urine tests - a blood test - a stool test - kidney biopsy Medical and Family History Taking a medical and family history is one of the first things a health care provider may do to help diagnose hemolytic uremic syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Hemolytic Uremic Syndrome in Children ? ### Response: Most children who develop hemolytic uremic syndrome and its complications recover without permanent damage to their health.1 However, children with hemolytic uremic syndrome may have serious and sometimes life-threatening complications, including " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemolytic Uremic Syndrome in Children ? ### Response: A health care provider will treat a child with hemolytic uremic syndrome by addressing - urgent symptoms and preventing complications - acute kidney injury - chronic kidney disease (CKD) In most cases, health care providers do not treat children with hemolytic uremic syndrome with antibiotics unless they have infections in other areas of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hemolytic Uremic Syndrome in Children ? ### Response: At the beginning of the illness, children with hemolytic uremic syndrome may need IV nutrition or supplements to help maintain fluid balance in the body. Some children may need to follow a low-salt diet to help prevent swelling and high blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hemolytic Uremic Syndrome in Children ? ### Response: - Hemolytic uremic syndrome, or HUS, is a kidney condition that happens when red blood cells are destroyed and block the kidneys' filtering system. - The most common cause of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Treatment Methods for Kidney Failure: Peritoneal Dialysis ? ### Response: Peritoneal dialysis is a treatment for kidney failure that uses the lining of your abdomen, or belly, to filter your blood inside your body. Doctors call this lining the peritoneum. A doctor will place a soft tube, called a catheter, in your belly a few weeks before you start treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Treatment Methods for Kidney Failure: Peritoneal Dialysis ? ### Response: The two types of peritoneal dialysis are continuous ambulatory peritoneal dialysisalso called CAPDand automated peritoneal dialysiswhich doctors sometimes call APD or continuous cycler-assisted peritoneal dialysis. After learning about the types of peritoneal dialysis, you can choose the type that best fits your schedule and lifestyle. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Treatment Methods for Kidney Failure: Peritoneal Dialysis ? ### Response: Your health care team will perform several tests to tell if your dialysis exchanges are removing enough wastes. These tests are especially important during the first weeks of treatment to determine whether your schedule is adequate. Peritoneal Equilibration Test " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Treatment Methods for Kidney Failure: Peritoneal Dialysis ? ### Response: Eating the right foods can help you feel better while on peritoneal dialysis. Talk with your dialysis centers dietitian to find a meal plan that works for you. Your dietary needs will depend on your treatment and other factors such as your weight and activity level. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Treatment Methods for Kidney Failure: Peritoneal Dialysis ? ### Response: - Peritoneal dialysis is a treatment for kidney failure that uses the lining of your abdomen, or belly, to filter your blood inside your body. - The two types of peritoneal dialysis are continuous ambulatory peritoneal dialysis and automated peritoneal dialysis. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Facing the Challenges of Chronic Kidney Disease in Children ? ### Response: For children with CKD, learning about nutrition is vital because their diet can affect how well their kidneys work. Parents or guardians should always consult with their childs health care team before making any dietary changes. Staying healthy with CKD requires paying close attention to the following elements of a diet: " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Facing the Challenges of Chronic Kidney Disease in Children ? ### Response: - Children with chronic kidney disease (CKD) may have a negative self-image and may have relationship problems with family members due to the stress of living with a chronic disease. The condition can lead to behavior problems and make participating in school and extracurricular activities more difficult. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing's Syndrome ? ### Response: Cushing's syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. Sometimes called hypercortisolism, Cushing's syndrome is relatively rare and most commonly affects adults aged 20 to 50. People who are obese and have type 2 diabetes, along with poorly controlled blood glucose-also called blood sugar-and high blood pressure, have an increased risk of developing the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cushing's Syndrome ? ### Response: Signs and symptoms of Cushing's syndrome vary, but most people with the disorder have upper body obesity, a rounded face, increased fat around the neck, and relatively slender arms and legs. Children tend to be obese with slowed growth rates. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cushing's Syndrome ? ### Response: Cushing's syndrome occurs when the body's tissues are exposed to high levels of cortisol for too long. Many people develop Cushing's syndrome because they take glucocorticoids-steroid hormones that are chemically similar to naturally produced cortisolsuch as prednisone for asthma, rheumatoid arthritis, lupus, and other inflammatory diseases. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cushing's Syndrome ? ### Response: Diagnosis is based on a review of a person's medical history, a physical examination, and laboratory tests. X rays of the adrenal or pituitary glands can be useful in locating tumors. Tests to Diagnose Cushing's Syndrome No single lab test is perfect and usually several are needed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cushing's Syndrome ? ### Response: Treatment depends on the specific reason for excess cortisol and may include surgery, radiation, chemotherapy, or the use of cortisol-inhibiting drugs. If the cause is long-term use of glucocorticoid hormones to treat another disorder, the doctor will gradually reduce the dosage to the lowest dose adequate for control of that disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Cushing's Syndrome ? ### Response: - Cushing's syndrome is a disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. - Typical signs and symptoms of Cushing's syndrome include upper body obesity, a rounded face, skin that bruises easily and heals poorly, weakened bones, excess body hair growth and menstrual irregularities in women, and decreased fertility in men. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Indigestion ? ### Response: Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. Indigestion is common in adults and can occur once in a while or as often as every day. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Indigestion ? ### Response: Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. If the condition improves or resolves, the symptoms of indigestion usually improve. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Indigestion ? ### Response: Most people with indigestion experience more than one of the following symptoms: - Fullness during a meal. The person feels overly full soon after the meal starts and cannot finish the meal. - Bothersome fullness after a meal. The person feels overly full after a mealit may feel like the food is staying in the stomach too long. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Indigestion ? ### Response: To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine. The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer disease is suspected as the cause of indigestion. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Indigestion ? ### Response: - Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. - Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) IgA Nephropathy ? ### Response: IgA nephropathy, also known as Bergers disease, is a kidney disease that occurs when IgA deposits build up in the kidneys, causing inflammation that damages kidney tissues. IgA is an antibodya protein made by the immune system to protect the body from foreign substances such as bacteria or viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What causes IgA Nephropathy ? ### Response: Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system harming the kidneys. People with IgA nephropathy have an increased blood level of IgA that contains less of a special sugar, galactose, than normal. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by IgA Nephropathy ? ### Response: IgA nephropathy is one of the most common kidney diseases, other than those caused by diabetes or high blood pressure.1 IgA nephropathy can occur at any age, although the first evidence of kidney disease most frequently appears when people are in their teens to late 30s. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of IgA Nephropathy ? ### Response: In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. Once symptoms appear, the most common one is hematuria, or blood in the urine. Hematuria can be a sign of damaged glomeruli. Blood in the urine may appear during or soon after a cold, sore throat, or other respiratory infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of IgA Nephropathy ? ### Response: Complications of IgA nephropathy include - high blood pressure - acute kidney failuresudden and temporary loss of kidney function - chronic kidney failurereduced kidney function over a period of time - nephrotic syndromea collection of symptoms that indicate kidney damage; symptoms include albuminuria, lack of protein in the blood, and high blood cholesterol levels - heart or cardiovascular problems - Henoch-Schnlein purpura " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose IgA Nephropathy ? ### Response: A health care provider diagnoses kidney disease with - a medical and family history - a physical exam - urine tests - a blood test Medical and Family History Taking a medical and family history may help a health care provider diagnose kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose IgA Nephropathy ? ### Response: Currently, health care providers do not use blood or urine tests as reliable ways to diagnose IgA nephropathy; therefore, the diagnosis of IgA nephropathy requires a kidney biopsy. A kidney biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for IgA Nephropathy ? ### Response: Researchers have not yet found a specific cure for IgA nephropathy. Once the kidneys are scarred, they cannot be repaired. Therefore, the ultimate goal of IgA nephropathy treatment is to prevent or delay end-stage kidney disease. A health care provider may prescribe medications to " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent IgA Nephropathy ? ### Response: Researchers have not found a way to prevent IgA nephropathy. People with a family history of IgA nephropathy should talk with their health care provider to find out what steps they can take to keep their kidneys healthy, such as controlling their blood pressure and keeping their blood cholesterol at healthy levels. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for IgA Nephropathy ? ### Response: - Immunoglobulin A (IgA) nephropathy, also known as Bergers disease, is a kidney disease that occurs when IgA deposits build up in the kidneys, causing inflammation that damages kidney tissues. - Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system attacking tissues in the kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Tract Infections in Children ? ### Response: A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Tract Infections in Children ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Tract Infections in Children ? ### Response: Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up, or refluxing, toward the kidneys, and urination washes microbes out of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Tract Infections in Children ? ### Response: Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up, or refluxing, toward the kidneys, and urination washes microbes out of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Urinary Tract Infections in Children? ? ### Response: Throughout childhood, the risk of having a UTI is 2 percent for boys and 8 percent for girls. Having an anomaly of the urinary tract, such as urine reflux from the bladder back into the ureters, increases the risk of a UTI. Boys who are younger than 6 months old who are not circumcised are at greater risk for a UTI than circumcised boys the same age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urinary Tract Infections in Children ? ### Response: Symptoms of a UTI range from slight burning with urination or unusual-smelling urine to severe pain and high fever. A child with a UTI may also have no symptoms. A UTI causes irritation of the lining of the bladder, urethra, ureters, and kidneys, just as the inside of the nose or the throat becomes irritated with a cold. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Tract Infections in Children ? ### Response: Only a health care provider can determine whether a child has a UTI. A urine sample will be collected and examined. The way urine is collected depends on the childs age: - If the child is not yet toilet trained, the health care provider may place a plastic collection bag over the childs genital area. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Tract Infections in Children ? ### Response: Most UTIs are caused by bacteria, which are treated with bacteria-fighting medications called antibiotics or antimicrobials. While a urine sample is sent to a laboratory, the health care provider may begin treatment with an antibiotic that treats the bacteria most likely to be causing the infection. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Tract Infections in Children ? ### Response: Once the infection has cleared, more tests may be recommended to check for abnormalities in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of urinary infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Tract Infections in Children ? ### Response: Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Tract Infections in Children ? ### Response: If a child has a normal urinary tract, parents can help the child avoid UTIs by encouraging regular trips to the bathroom. The parents should make sure the child gets enough to drink if infrequent urination is a problem. The child should be taught proper cleaning techniques after using the bathroom to keep bacteria from entering the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Tract Infections in Children ? ### Response: If a child has a normal urinary tract, parents can help the child avoid UTIs by encouraging regular trips to the bathroom. The parents should make sure the child gets enough to drink if infrequent urination is a problem. The child should be taught proper cleaning techniques after using the bathroom to keep bacteria from entering the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Urinary Tract Infections in Children ? ### Response: - Urinary tract infections (UTIs) usually occur when the body fails to remove bacteria rapidly from the urinary tract. - UTIs affect about 3 percent of children in the United States every year. - Most UTIs are not serious, but chronic kidney infections can cause permanent damage. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis C ? ### Response: Hepatitis* C is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis C ? ### Response: The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Hepatitis C ? ### Response: Most people do not have any symptoms until the hepatitis C virus causes liver damage, which can take 10 or more years to happen. Others may have one or more of the following symptoms: - feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis C ? ### Response: Chronic hepatitis C is a long-lasting infection with the hepatitis C virus. Chronic hepatitis C occurs when the body cant get rid of the hepatitis C virus. Most hepatitis C infections become chronic. Without treatment, chronic hepatitis C can cause liver cancer or severe liver damage that leads to liver failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Hepatitis C ? ### Response: A blood test will show if you have hepatitis C. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis C. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hepatitis C ? ### Response: Hepatitis C is usually not treated unless it becomes chronic. Chronic hepatitis C is treated with medicines that slow or stop the virus from damaging the liver. Your doctor will closely watch your symptoms and schedule regular blood tests to make sure the treatment is working. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hepatitis C ? ### Response: Hepatitis C is usually not treated unless it becomes chronic. Chronic hepatitis C is treated with medicines that slow or stop the virus from damaging the liver. Your doctor will closely watch your symptoms and schedule regular blood tests to make sure the treatment is working. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Hepatitis C ? ### Response: - Hepatitis C is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis C, but some people are more likely to than others. - You could get hepatitis C through contact with an infected persons blood. - Most people do not have any symptoms until the hepatitis C virus causes liver damage, which can take 10 or more years to happen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cirrhosis ? ### Response: Cirrhosis is a condition in which the liver slowly deteriorates and is unable to function normally due to chronic, or long lasting, injury. Scar tissue replaces healthy liver tissue and partially blocks the flow of blood through the liver. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cirrhosis ? ### Response: Cirrhosis has various causes. Many people with cirrhosis have more than one cause of liver damage. The list below shows common causes of cirrhosis in the United States.2 While chronic hepatitis C and alcohol-related liver disease are the most common causes of cirrhosis, the incidence of cirrhosis caused by nonalcoholic fatty liver disease is rising due to increasing rates of obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cirrhosis ? ### Response: Many people with cirrhosis have no symptoms in the early stages of the disease. However, as the disease progresses, a person may experience the following symptoms: - fatigue, or feeling tired - weakness - itching - loss of appetite - we " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Cirrhosis ? ### Response: As the liver fails, complications may develop. In some people, complications may be the first signs of the disease. Complications of cirrhosis may include the following: Portal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cirrhosis ? ### Response: A health care provider usually diagnoses cirrhosis based on the presence of conditions that increase its likelihood, such as heavy alcohol use or obesity, and symptoms. A health care provider may test for cirrhosis based on the presence of these conditions alone because many people do not have symptoms in the early stages of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cirrhosis ? ### Response: Treatment for cirrhosis depends on the cause of the disease and whether complications are present. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospitalization to manage complications. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Cirrhosis ? ### Response: A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones in Children ? ### Response: A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass out of the body causing little or no pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones in Children ? ### Response: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kidney Stones in Children ? ### Response: Kidney stones can form when substances in the urinesuch as calcium, magnesium, oxalate, and phosphorousbecome highly concentrated due to one or more causes: - Defects in the urinary tract may block the flow of urine and create pools of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kidney Stones in Children ? ### Response: Children with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. Children may experience nausea and vomiting with the pain. However, children who have small stones that pass easily through the urinary tract may not have symptoms at all. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones in Children ? ### Response: Four major types of kidney stones occur in children: - Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation has various causes, which may include high calcium excretion, high oxalate excretion, or acidic urine. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kidney Stones in Children ? ### Response: The process of diagnosing any illness begins with consideration of the symptoms. Pain or bloody urine may be the first symptom. Urine, blood, and imaging tests will help determine whether symptoms are caused by a stone. Urine tests can be used to check for infection and for substances that form stones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Stones in Children ? ### Response: The treatment for a kidney stone usually depends on its size and what it is made of, as well as whether it is causing symptoms of pain or obstructing the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, children will often require pain control and encouragement to drink lots of fluids to help move the stone along. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Kidney Stones in Children ? ### Response: To prevent kidney stones, health care providers and their patients must understand what is causing the stones to form. Especially in children with suspected metabolic abnormalities or with recurrent stones, a 24-hour urine collection is obtained to measure daily urine volume and to determine if any underlying mineral abnormality is making a child more likely to form stones. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Stones in Children ? ### Response: Families may benefit from meeting with a dietitian to learn how dietary management can help in preventing stones. Depending on the underlying cause of the stone formation, medications may be necessary to prevent recurrent stones. Dietary changes and medications may be required for a long term or, quite often, for life. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Kidney Stones in Children ? ### Response: - A kidney stone is a solid piece of material that forms in a kidney when some substances that are normally found in the urine become highly concentrated. - Kidney stones occur in infants, children, and teenagers from all races and ethnicities. - Kidney stones in children are diagnosed using a combination of urine, blood, and imaging tests. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis B ? ### Response: Hepatitis* B is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis B ? ### Response: The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of What I need to know about Hepatitis B ? ### Response: Most people do not have any symptoms of hepatitis B. Adults and children ages 5 and older may have one or more of the following symptoms: - feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis B ? ### Response: Acute hepatitis B is a short-term infection with the hepatitis B virus. Symptoms usually last several weeks but they can last up to 6 months. The infection sometimes clears up because your body is able to fight off the infection and get rid of the virus. Most healthy adults and children older than 5 who have hepatitis B get better without treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Hepatitis B ? ### Response: Chronic hepatitis B is a long-lasting infection with the hepatitis B virus. Chronic hepatitis B occurs when the body cant get rid of the hepatitis B virus. Children, especially infants, are more likely to get chronic hepatitis B, which usually has no symptoms until signs of liver damage appear. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Hepatitis B ? ### Response: A blood test will show if you have hepatitis B. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis B. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hepatitis B ? ### Response: Hepatitis B is not usually treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver. Medicines for Chronic Hepatitis B Your doctor will choose medicines or a combination of medicines that are likely to work for you. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Hepatitis B ? ### Response: Hepatitis B is not usually treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver. Medicines for Chronic Hepatitis B Your doctor will choose medicines or a combination of medicines that are likely to work for you. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Hepatitis B ? ### Response: - Hepatitis B is a virus, or infection, that causes liver disease and inflammation of the liver. - Anyone can get hepatitis B, but some people are more likely to than others. - You could get hepatitis B through contact with an infected persons blood, semen, or other body fluid. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Nonalcoholic Steatohepatitis ? ### Response: NASH is usually first suspected in a person who is found to have elevations in liver tests that are included in routine blood test panels, such as alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x rays or imaging studies of the liver show fat, NASH is suspected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nonalcoholic Steatohepatitis ? ### Response: NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nonalcoholic Steatohepatitis ? ### Response: Although NASH has become more common, its underlying cause is still not clear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes, but not every obese person or every patient with diabetes has NASH. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nonalcoholic Steatohepatitis ? ### Response: Currently, no specific therapies for NASH exist. The most important recommendations given to persons with this disease are to - reduce their weight (if obese or overweight) - follow a balanced and healthy diet - increase physical activity - avoid alcohol - avoid unnecessary medications " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Nonalcoholic Steatohepatitis ? ### Response: - Nonalcoholic steatohepatitis (NASH) is fat in the liver, with inflammation and damage. - NASH occurs in people who drink little or no alcohol and affects 2 to 5 percent of Americans, especially people who are middle-aged and overweight or obese. - NASH can occur in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ? ### Response: Type 2 diabetes, formerly called adult-onset diabetes, is the most common type of diabetes. About 95 percent of people with diabetes have type 2. People can develop type 2 diabetes at any age, even during childhood. However, this type of diabetes develops most often in middle-aged and older people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ? ### Response: In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes. Type 1 Diabetes Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ? ### Response: The signs and symptoms of type 2 diabetes can be so mild that you might not even notice them. Nearly 7 million people in the United States have type 2 diabetes and dont know they have the disease. Many have no signs or symptoms. Some people have symptoms but do not suspect diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ? ### Response: You can do a lot to reduce your risk of getting type 2 diabetes. Being more physically active, reducing fat and calorie intake, and losing a little weight can help you lower your chances of developing type 2 diabetes. Taking the diabetes medicine metformin can also reduce risk, particularly in younger and heavier people with prediabetes and women who have had gestational diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ? ### Response: Making big changes in your life is hard, especially if you are faced with more than one change. You can make it easier by taking these steps: - Make a plan to change behavior. - Decide exactly what you will do and give yourself a time frame. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ? ### Response: Your eating, diet, and nutrition choices play an important role in preventing or delaying diabetes. Follow the suggestions below to reach and maintain a reasonable weight and make wise food choices most of the time. Remember that it can take time to change your habits and be patient with yourself. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medullary Sponge Kidney ? ### Response: Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus growth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Medullary Sponge Kidney ? ### Response: Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Medullary Sponge Kidney ? ### Response: Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Medullary Sponge Kidney ? ### Response: Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Medullary Sponge Kidney ? ### Response: A health care provider diagnoses medullary sponge kidney based on - a medical and family history - a physical exam - imaging studies Medical and Family History Taking a medical and family history can help diagnose medullary sponge kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Medullary Sponge Kidney ? ### Response: Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on - curing an existing UTI - removing any kidney stones " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Medullary Sponge Kidney ? ### Response: Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on - curing an existing UTI - removing any kidney stones " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Medullary Sponge Kidney ? ### Response: Health care providers may prescribe certain medications to prevent UTIs and kidney stones: - A person with medullary sponge kidney may need to continue taking a low-dose antibiotic to prevent recurrent infections. - Medications that reduce calcium in the urine may help prevent calcium kidney stones. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Medullary Sponge Kidney ? ### Response: The following changes in diet may help prevent UTIs and kidney stone formation: - Drinking plenty of water and other liquids can help flush bacteria from the urinary tract and dilute urine so kidney stones cannot form. A person should drink enough liquid to produce about 2 to 2. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Medullary Sponge Kidney ? ### Response: - Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vesicoureteral Reflux ? ### Response: Vesicoureteral reflux is the abnormal flow of urine from the bladder to the upper urinary tract. The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Vesicoureteral Reflux? ? ### Response: Vesicoureteral reflux is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR.1 Studies estimate that VUR occurs in about 32 percent of siblings of an affected child. This rate may be as low as 7 percent in older siblings and as high as 100 percent in identical twins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vesicoureteral Reflux ? ### Response: In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). VUR can lead to infection because urine that remains in the childs urinary tract provides a place for bacteria to grow. Studies estimate that 30 percent of children and up to 70 percent of infants with a UTI have VUR. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Vesicoureteral Reflux ? ### Response: When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure. However, most children with VUR who get a UTI recover without long-term complications. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Vesicoureteral Reflux ? ### Response: The most common tests used to diagnose VUR include - Voiding cystourethrogram (VCUG). VCUG is an x-ray image of the bladder and urethra taken during urination, also called voiding. The bladder and urethra are filled with a special dye, called contrast medium, to make the urethra clearly visible. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Vesicoureteral Reflux ? ### Response: Following diagnosis, children with VUR should have a general medical evaluation that includes blood pressure measurement, as high blood pressure is an indicator of kidney damage. If both kidneys are affected, a childs blood should be tested for creatininea waste product of normal muscle breakdown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vesicoureteral Reflux ? ### Response: The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Antibiotics are bacteria-fighting medications. Surgery has also been used in certain cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vesicoureteral Reflux ? ### Response: Secondary VUR is treated by removing the blockage causing the reflux. Treatment may involve - surgery - antibiotics - intermittent catheterizationdraining the bladder by inserting a thin tube, called a catheter, through the urethra to the " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vesicoureteral Reflux ? ### Response: Secondary VUR is treated by removing the blockage causing the reflux. Treatment may involve - surgery - antibiotics - intermittent catheterizationdraining the bladder by inserting a thin tube, called a catheter, through the urethra to the " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Vesicoureteral Reflux ? ### Response: - Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder to the upper urinary tract. - VUR is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR. - In many cases, a child with VUR has no symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ulcerative Colitis ? ### Response: Ulcerative colitis is a chronic, or long lasting, disease that causes inflammationirritation or swellingand sores called ulcers on the inner lining of the large intestine. Ulcerative colitis is a chronic inflammatory disease of the gastrointestinal (GI) tract, called inflammatory bowel disease (IBD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ulcerative Colitis ? ### Response: The large intestine is part of the GI tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusan opening through which stool leaves the body. The last part of the GI tract, called the lower GI tract, consists of the large intestinewhich includes the appendix, cecum, colon, and rectumand anus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ulcerative Colitis ? ### Response: The exact cause of ulcerative colitis is unknown. Researchers believe the following factors may play a role in causing ulcerative colitis: - overactive intestinal immune system - genes - environment Overactive intestinal immune system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulcerative Colitis ? ### Response: The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include - an urgent need to have a bowel movement - feeling tired - nausea or loss of appetite - weight loss - fever - anemiaa condition in which the body has fewer red blood cells than normal " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ulcerative Colitis ? ### Response: A health care provider diagnoses ulcerative colitis with the following: - medical and family history - physical exam - lab tests - endoscopies of the large intestine The health care provider may perform a series of medical tests to rule out other bowel disorders, such as irritable bowel syndrome, Crohn's disease, or celiac disease, that may cause symptoms similar to those of ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ulcerative Colitis ? ### Response: A health care provider treats ulcerative colitis with - medications - surgery Which treatment a person needs depends on the severity of the disease and the symptoms. Each person experiences ulcerative colitis differently, so health care providers adjust treatments to improve the person's symptoms and induce, or bring about, remission. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Ulcerative Colitis ? ### Response: Researchers have not found that eating, diet, and nutrition play a role in causing ulcerative colitis symptoms. Good nutrition is important in the management of ulcerative colitis, however. Dietary changes can help reduce symptoms. A health care provider may recommend dietary changes such as " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Ulcerative Colitis ? ### Response: Complications of ulcerative colitis can include - rectal bleedingwhen ulcers in the intestinal lining open and bleed. Rectal bleeding can cause anemia, which health care providers can treat with diet changes and iron supplements. People who have a large amount of bleeding in the intestine over a short period of time may require surgery to stop the bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Ulcerative Colitis ? ### Response: - Ulcerative colitis is a chronic, or long lasting, disease that causes inflammationirritation or swellingand sores called ulcers on the inner lining of the large intestine. - The exact cause of ulcerative colitis is unknown. Researchers believe that factors such as an overactive intestinal immune system, genes, and environment may play a role in causing ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Short Bowel Syndrome ? ### Response: Short bowel syndrome is a group of problems related to poor absorption of nutrients. Short bowel syndrome typically occurs in people who have - had at least half of their small intestine removed and sometimes all or part of their large intestine removed - significant damage of the small intestine - poor motility, or movement, inside the intestines " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Short Bowel Syndrome ? ### Response: The small intestine is the tube-shaped organ between the stomach and large intestine. Most food digestion and nutrient absorption take place in the small intestine. The small intestine is about 20 feet long and includes the duodenum, jejunum, and ileum: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Short Bowel Syndrome ? ### Response: The small intestine is the tube-shaped organ between the stomach and large intestine. Most food digestion and nutrient absorption take place in the small intestine. The small intestine is about 20 feet long and includes the duodenum, jejunum, and ileum: " "Below is an instruction from Human. Write a response. ### Instruction: What causes Short Bowel Syndrome ? ### Response: The main cause of short bowel syndrome is surgery to remove a portion of the small intestine. This surgery can treat intestinal diseases, injuries, or birth defects. Some children are born with an abnormally short small intestine or with part of their bowel missing, which can cause short bowel syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Short Bowel Syndrome ? ### Response: The main cause of short bowel syndrome is surgery to remove a portion of the small intestine. This surgery can treat intestinal diseases, injuries, or birth defects. Some children are born with an abnormally short small intestine or with part of their bowel missing, which can cause short bowel syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short Bowel Syndrome ? ### Response: The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead to dehydration, malnutrition, and weight loss. Dehydration means the body lacks enough fluid and electrolyteschemicals in salts, including sodium, potassium, and chlorideto work properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Short Bowel Syndrome ? ### Response: The complications of short bowel syndrome may include - malnutrition - peptic ulcerssores on the lining of the stomach or duodenum caused by too much gastric acid - kidney stonessolid pieces of material that form in the kidneys - small intestinal bacterial overgrowtha condition in which abnormally large numbers of bacteria grow in the small intestine " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short Bowel Syndrome ? ### Response: People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: - excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Short Bowel Syndrome ? ### Response: A health care provider diagnoses short bowel syndrome based on - a medical and family history - a physical exam - blood tests - fecal fat tests - an x-ray of the small and large intestines - upper gastrointestinal (GI) series - computerized tomography (CT) scan " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Short Bowel Syndrome ? ### Response: A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include - nutritional support - medications - surgery - intestinal transplant Nutritional Support " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Short Bowel Syndrome ? ### Response: A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include - nutritional support - medications - surgery - intestinal transplant Nutritional Support " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Short Bowel Syndrome ? ### Response: Intestinal adaptation is a process that usually occurs in children after removal of a large portion of their small intestine. The remaining small intestine goes through a period of adaptation and grows to increase its ability to absorb nutrients. Intestinal adaptation can take up to 2 years to occur, and during this time a person may be heavily dependent on parenteral or enteral nutrition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Short Bowel Syndrome ? ### Response: Intestinal adaptation is a process that usually occurs in children after removal of a large portion of their small intestine. The remaining small intestine goes through a period of adaptation and grows to increase its ability to absorb nutrients. Intestinal adaptation can take up to 2 years to occur, and during this time a person may be heavily dependent on parenteral or enteral nutrition. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Short Bowel Syndrome ? ### Response: - Short bowel syndrome is a group of problems related to poor absorption of nutrients. - People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. - The main symptom of short bowel syndrome is diarrhealoose, watery stools. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Your Guide to Diabetes: Type 1 and Type 2 ? ### Response: Diabetes is when your blood glucose, also called blood sugar, is too high. Blood glucose is the main type of sugar found in your blood and your main source of energy. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries glucose to all of your bodys cells to use for energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Your Guide to Diabetes: Type 1 and Type 2 ? ### Response: Prediabetes is when the amount of glucose in your blood is above normal yet not high enough to be called diabetes. With prediabetes, your chances of getting type 2 diabetes, heart disease, and stroke are higher. With some weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Your Guide to Diabetes: Type 1 and Type 2 ? ### Response: The signs and symptoms of diabetes are - being very thirsty - urinating often - feeling very hungry - feeling very tired - losing weight without trying - sores that heal slowly - dry, itchy skin - feelings of pins and needles in your feet - losing feeling in your feet - blurry eyesight " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hashimoto's Disease ? ### Response: Hashimotos disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hashimoto's Disease ? ### Response: The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hashimoto's Disease ? ### Response: Many people with Hashimotos disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged thyroid, called a goiter, may create a feeling of fullness in the throat, though it is usually not painful. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hashimoto's Disease ? ### Response: Diagnosis begins with a physical exam and medical history. A goiter, nodules, or growths may be found during a physical exam, and symptoms may suggest hypothyroidism. Health care providers will then perform blood tests to confirm the diagnosis. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hashimoto's Disease ? ### Response: Treatment generally depends on whether the thyroid is damaged enough to cause hypothyroidism. In the absence of hypothyroidism, some health care providers treat Hashimotos disease to reduce the size of the goiter. Others choose not to treat the disease and simply monitor their patients for disease progression. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hashimoto's Disease ? ### Response: Iodine is an essential mineral for the thyroid. However, people with Hashimotos disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hypothyroidism. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Hashimoto's Disease ? ### Response: - Hashimotos disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. - Hashimotos disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid doesnt make enough thyroid hormone for the bodys needs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Incontinence in Children ? ### Response: The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases probably result from a mix of factors including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Incontinence in Children ? ### Response: Daytime UI can be caused by a UTI or structural problems in the urinary tract. Daytime UI that is not associated with UTI or structural problems is less common and tends to disappear much earlier than nighttime UI. Overactive bladder and infrequent or incomplete voiding, or urination, are common causes of daytime UI. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Incontinence in Children ? ### Response: Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications. Growth and Development " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Incontinence in Children ? ### Response: Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications. Growth and Development " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Urinary Incontinence in Children ? ### Response: - Urinary incontinence (UI) is the loss of bladder control, which results in the accidental loss of urine. A child with UI may not stay dry during the day or night. Although UI affects many children, it usually disappears naturally over time. - By 5 years of age, more than 98 percent of children can control urination during the day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Diarrhea in Children ? ### Response: Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. Children with chronic diarrhea may have loose, watery stools continually, or diarrhea may come and go. Chronic diarrhea may go away without treatment, or it may be a symptom of a chronic disease or disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic Diarrhea in Children ? ### Response: Many diseases and disorders can cause chronic diarrhea in children. Common causes include - infections - functional gastrointestinal (GI) disorders - food allergies and intolerances - inflammatory bowel disease (IBD) Infections, food allergies and intolerances, and IBD may cause chronic diarrhea along with malabsorption, meaning the small intestine does not absorb nutrients from food. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic Diarrhea in Children ? ### Response: Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include - cramping - abdominal pain - nausea or vomiting - fever - chills - bloody stools Children with chronic diarrhea who have malabsorption can experience " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic Diarrhea in Children ? ### Response: To determine the cause of chronic diarrhea in children, the health care provider will take a complete medical and family history and conduct a physical exam, and may perform tests. Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help determine the cause of chronic diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Diarrhea in Children ? ### Response: The treatment for chronic diarrhea will depend on the cause. Some common causes of chronic diarrhea are treated as follows: - Infections. If a child has prolonged problems digesting certain carbohydrates or proteins after an acute infection, a health care provider may recommend changes in diet. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Chronic Diarrhea in Children ? ### Response: A health care provider may recommend changing a childs diet to treat the cause of chronic diarrhea. Making sure that children receive proper nutrition is important for growth and development. A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Chronic Diarrhea in Children ? ### Response: - Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. - Many diseases and disorders can cause chronic diarrhea in children. Common causes include infections, functional gastrointestinal (GI) disorders, food allergies and intolerances, and inflammatory bowel disease (IBD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Irritable Bowel Syndrome in Children ? ### Response: Irritable bowel syndrome is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. IBS is not a disease; it is a group of symptoms that occur together. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Irritable Bowel Syndrome in Children ? ### Response: Limited information is available about the number of children with IBS. Older studies have reported prevalence rates for recurrent abdominal pain in children of 10 to 20 percent.1 However, these studies did not differentiate IBS from functional abdominal pain, indigestion, and abdominal migraine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Irritable Bowel Syndrome in Children ? ### Response: The symptoms of IBS include abdominal pain or discomfort and changes in bowel habits. To meet the definition of IBS, the pain or discomfort should be associated with two of the following three symptoms: - start with bowel movements that occur more or less often than usual - start with stool that appears looser and more watery or harder and more lumpy than usual - improve with a bowel movement " "Below is an instruction from Human. Write a response. ### Instruction: What causes Irritable Bowel Syndrome in Children ? ### Response: The causes of IBS are not well understood. Researchers believe a combination of physical and mental health problems can lead to IBS. The possible causes of IBS in children include the following: - Brain-gut signal problems. Signals between the brain and nerves of the small and large intestines, also called the gut, control how the intestines work. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Irritable Bowel Syndrome in Children ? ### Response: To diagnose IBS, a health care provider will conduct a physical exam and take a complete medical history. The medical history will include questions about the childs symptoms, family members with GI disorders, recent infections, medications, and stressful events related to the onset of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Irritable Bowel Syndrome in Children ? ### Response: To diagnose IBS, a health care provider will conduct a physical exam and take a complete medical history. The medical history will include questions about the childs symptoms, family members with GI disorders, recent infections, medications, and stressful events related to the onset of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Irritable Bowel Syndrome in Children ? ### Response: Large meals can cause cramping and diarrhea, so eating smaller meals more often, or eating smaller portions, may help IBS symptoms. Eating meals that are low in fat and high in carbohydrates, such as pasta, rice, whole-grain breads and cereals, fruits, and vegetables may help. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Irritable Bowel Syndrome in Children ? ### Response: - Irritable bowel syndrome (IBS) is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. - IBS is not a disease; it is a group of symptoms that occur together. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Gestational Diabetes ? ### Response: Gestational* diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. Your body uses glucose for energy. Too much glucose in your blood is not good for you or your baby. " "Below is an instruction from Human. Write a response. ### Instruction: What causes What I need to know about Gestational Diabetes ? ### Response: Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) What I need to know about Gestational Diabetes ? ### Response: Your chances of getting gestational diabetes are higher if you - are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - h " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Gestational Diabetes ? ### Response: Doctors use blood tests to diagnose gestational diabetes. All diabetes blood tests involve drawing blood at a doctor's office or a commercial facility. Blood samples are sent to a lab for analysis. Screening Glucose Challenge Test " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Gestational Diabetes ? ### Response: If you have gestational diabetes, your doctor may recommend that you have some extra tests to check your baby's health, such as - ultrasound exams, which use sound waves to make images that show your baby's growth and whether your baby is l " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for What I need to know about Gestational Diabetes ? ### Response: Treating gestational diabetes means taking steps to keep your blood glucose levels in a target range. Targets are numbers you aim for. Your doctor will help you set your targets. You will learn how to control your blood glucose using - heal " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Gestational Diabetes ? ### Response: Your health care team will help you make a healthy eating plan with food choices that are good for both you and your baby. These choices are good for you to follow throughout pregnancy and after, as you raise your family. Using a healthy eating plan will help your blood glucose stay in your target range. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose What I need to know about Gestational Diabetes ? ### Response: Your health care team may teach you how to test for chemicals called ketones in your morning urine or in your blood. High levels of ketones are a sign that your body is using your body fat for energy instead of the food you eat. Using fat for energy is not recommended during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent What I need to know about Gestational Diabetes ? ### Response: You can do a lot to prevent or delay type 2 diabetes by making these lifestyle changes: - Reach and stay at a healthy weight. Try to reach your prepregnancy weight 6 to 12 months after your baby is born. Then, if you still weigh too much, work to lose at least 5 to 7 percent of your body weight and keep it off. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for What I need to know about Gestational Diabetes ? ### Response: - Gestational diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. - Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List ? ### Response: MAGIC (Major Aspects of Growth in Children) Foundation is a national, nonprofit organization that provides support and education about growth disorders in children and growth hormone deficiency in adults. Staff will help connect people who have similar interests or concerns. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List ? ### Response: Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated with Human Growth Hormone National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Summary) " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liver (Hepatocellular) Cancer ? ### Response: Key Points - Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - Liver cancer is less common in the United States than in other parts of the world. - Having hepatitis or cirrhosis can increase the risk of developing liver cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Liver (Hepatocellular) Cancer? ? ### Response: Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Key Points - Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer are diseases in which malignant (cancer) cells form in the tissue covering the ovary or lining the fallopian tube or peritoneum. - Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer form in the same type of tissue and are treated the same way. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer? ? ### Response: Women who have a family history of ovarian cancer are at an increased risk of ovarian cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer inherited ? ### Response: Some ovarian, fallopian tube, and primary peritoneal cancers are caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary ovarian cancer makes up about 20% of all cases of ovarian cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Women with an increased risk of ovarian cancer may consider surgery to lessen the risk. Some women who have an increased risk of ovarian cancer may choose to have a risk-reducing oophorectomy (the removal of healthy ovaries so that cancer cannot grow in them). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Signs and symptoms of ovarian, fallopian tube, or peritoneal cancer include pain or swelling in the abdomen. Ovarian, fallopian tube, or peritoneal cancer may not cause early signs or symptoms. When signs or symptoms do appear, the cancer is often advanced. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Tests that examine the ovaries and pelvic area are used to detect (find) and diagnose ovarian, fallopian tube, and peritoneal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following: - The type of ovarian cancer and how much cancer there is. - The stage and grade of the cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Key Points - After ovarian, fallopian tube, or peritoneal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the ovaries or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Key Points - There are different types of treatment for patients with ovarian epithelial cancer. - Three kinds of standard treatment are used. - Surgery - Chemotherapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypopharyngeal Cancer ? ### Response: Key Points - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. - Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hypopharyngeal Cancer? ? ### Response: Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypopharyngeal Cancer ? ### Response: Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by hypopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypopharyngeal Cancer ? ### Response: Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer. The following tests and procedures may be used: - Physical exam of the throat: An exam in which the doctor feels for swollen lymph nodes in the neck and looks down the throat with a small, long-handled mirror to check for abnormal areas. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hypopharyngeal Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer (whether it affects part of the hypopharynx, involves the whole hypopharynx, or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Hypopharyngeal Cancer ? ### Response: Key Points - After hypopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the hypopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypopharyngeal Cancer ? ### Response: Key Points - There are different types of treatment for patients with hypopharyngeal cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hypopharyngeal Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastrointestinal Stromal Tumors ? ### Response: Key Points - Gastrointestinal stromal tumor is a disease in which abnormal cells form in the tissues of the gastrointestinal tract. - Genetic factors can increase the risk of having a gastrointestinal stromal tumor. - Signs of gastrointestinal stromal tumors include blood in the stool or vomit. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gastrointestinal Stromal Tumors? ? ### Response: Genetic factors can increase the risk of having a gastrointestinal stromal tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastrointestinal Stromal Tumors ? ### Response: Signs of gastrointestinal stromal tumors include blood in the stool or vomit. These and other signs and symptoms may be caused by a GIST or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool or vomit. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Gastrointestinal Stromal Tumors ? ### Response: Key Points - After a gastrointestinal stromal tumor has been diagnosed, tests are done to find out if cancer cells have spread within the gastrointestinal tract or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gastrointestinal Stromal Tumors ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gastrointestinal Stromal Tumors ? ### Response: Key Points - There are different types of treatment for patients with gastrointestinal stromal tumors. - Four types of standard treatment are used: - Surgery - Targeted therapy - Watchful waiting - Supportive care - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) AIDS-Related Lymphoma ? ### Response: Key Points - AIDS-related lymphoma is a disease in which malignant (cancer) cells form in the lymph system of patients who have acquired immunodeficiency syndrome (AIDS). - There are many different types of lymphoma. - Signs of AIDS-related lymphoma include weight loss, fever, and night sweats. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of AIDS-Related Lymphoma ? ### Response: Signs of AIDS-related lymphoma include weight loss, fever, and night sweats. These and other signs and symptoms may be caused by AIDS-related lymphoma or by other conditions. Check with your doctor if you have any of the following: - Weight loss or fever for no known reason. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose AIDS-Related Lymphoma ? ### Response: Tests that examine the lymph system and other parts of the body are used to help detect (find) and diagnose AIDS-related lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for AIDS-Related Lymphoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The age of the patient. - The number of CD4 lymphocytes (a type of white blood cell) in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of AIDS-Related Lymphoma ? ### Response: Key Points - After AIDS-related lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of AIDS-related lymphoma may include E and S. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for AIDS-Related Lymphoma ? ### Response: Key Points - There are different types of treatment for patients with AIDS-related lymphoma. - Treatment of AIDS-related lymphoma combines treatment of the lymphoma with treatment for AIDS. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - High-dose chemotherapy with stem cell transplant - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroblastoma ? ### Response: Key Points - Neuroblastoma is a disease in which malignant (cancer) cells form in nerve tissue. - Most cases of neuroblastoma are diagnosed before 1 year of age. - The risk factors for neuroblastoma are not known. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroblastoma ? ### Response: Key Points - Neuroblastoma is a disease in which malignant (cancer) cells form in nerve tissue. - Most cases of neuroblastoma are diagnosed before 1 year of age. - The risk factors for neuroblastoma are not known. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Neuroblastoma? ? ### Response: Key Points - Screening tests have risks. - The risks of neuroblastoma screening include the following: - Neuroblastoma may be overdiagnosed. - False-negative test results can occur. - False-positive test results can occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Myelomonocytic Leukemia ? ### Response: Key Points - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Older age and being male increase the risk of chronic myelomonocytic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Chronic Myelomonocytic Leukemia? ? ### Response: Older age and being male increase the risk of chronic myelomonocytic leukemia. Anything that increases your chance of getting a disease is called a risk factor. Possible risk factors for CMML include the following: - Older age. - Being male. - Being exposed to certain substances at work or in the environment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic Myelomonocytic Leukemia ? ### Response: Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by CMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chronic Myelomonocytic Leukemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for CMML depend on the following: - The number of white blood cells or platelets in the blood or bone marrow. - Whether the patient is anemic. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Myelomonocytic Leukemia ? ### Response: Treatment of chronic myelomonocytic leukemia (CMML) may include the following: - Chemotherapy with one or more agents. - Stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic myelomonocytic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Brain Stem Glioma ? ### Response: Key Points - Childhood brain stem glioma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain stem. - Brain tumors may be benign (not cancer) or malignant (cancer). - There are two types of brain stem gliomas in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Brain Stem Glioma ? ### Response: Key Points - Childhood brain stem glioma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain stem. - Brain tumors may be benign (not cancer) or malignant (cancer). - There are two types of brain stem gliomas in children. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Brain Stem Glioma? ? ### Response: Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Brain Stem Glioma ? ### Response: The signs and symptoms of brain stem glioma are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain. - The size of the tumor and whether it has spread all through the brain stem. - How fast the tumor grows. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Brain Stem Glioma ? ### Response: Tests that examine the brain are used to detect (find) childhood brain stem glioma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Brain Stem Glioma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on: - The type of brain stem glioma. - Where the tumor is found in the brain and if it has spread within the brain stem. - The age of the child when diagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Brain Stem Glioma ? ### Response: Key Points - The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain. The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Brain Stem Glioma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Brain Stem Glioma ? ### Response: Key Points - There are different types of treatment for children with brain stem glioma. - Children with brain stem glioma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the most common nonskin cancer among men in the United States. - Different factors increase or decrease the risk of developing prostate cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Prostate cancer is the most common nonskin cancer among men in the United States. Prostate cancer is found mainly in older men. Although the number of men with prostate cancer is large, most men diagnosed with this disease do not die from it. Prostate cancer causes more deaths in men than any other cancer except lung cancer and colorectal cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Different factors increase or decrease the risk of developing prostate cancer. Anything that increases a person's chance of developing a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: Key Points - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Sometimes breast cancer occurs in women who are pregnant or have just given birth. - Signs of breast cancer include a lump or change in the breast. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: Key Points - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Sometimes breast cancer occurs in women who are pregnant or have just given birth. - Signs of breast cancer include a lump or change in the breast. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Breast Cancer ? ### Response: Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Breast Cancer ? ### Response: Breast exams should be part of prenatal and postnatal care. To detect breast cancer, pregnant and nursing women should examine their breasts themselves. Women should also receive clinical breast exams during their regular prenatal and postnatal check-ups. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Breast Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the breast only or has spread to other parts of the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Breast Cancer ? ### Response: Key Points - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Key Points - Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Ending the pregnancy does not seem to improve the mothers chance of survival. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nasopharyngeal Cancer ? ### Response: Key Points - Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. - Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. - Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Nasopharyngeal Cancer? ? ### Response: Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nasopharyngeal Cancer ? ### Response: Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. These and other signs and symptoms may be caused by nasopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A lump in the nose or neck. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Nasopharyngeal Cancer ? ### Response: Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as swollen lymph nodes in the neck or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Nasopharyngeal Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Nasopharyngeal Cancer ? ### Response: Key Points - After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nasopharyngeal Cancer ? ### Response: Key Points - There are different types of treatment for patients with nasopharyngeal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Nasopharyngeal Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Central Nervous System Germ Cell Tumors ? ### Response: Key Points - Childhood central nervous system (CNS) germ cell tumors form from germ cells. - There are different types of childhood CNS germ cell tumors. - Germinomas - Nongerminomas - The cause of most childhood CNS germ cell tumors is not known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Central Nervous System Germ Cell Tumors ? ### Response: Key Points - Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord. Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Central Nervous System Germ Cell Tumors ? ### Response: Key Points - Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord. Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Central Nervous System Germ Cell Tumors ? ### Response: Signs and symptoms of childhood CNS germ cell tumors include unusual thirst, frequent urination, early puberty, or vision changes. Signs and symptoms depend on the following: - Where the tumor has formed. - The size of the tumor. - Whether the tumor makes hormones. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Central Nervous System Germ Cell Tumors ? ### Response: Imaging studies and tests are used to detect (find) and diagnose childhood CNS germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Central Nervous System Germ Cell Tumors ? ### Response: Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - The type of germ cell tumor. - The type and level of any tumor markers. - Where the tumor is in the brain or in the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Central Nervous System Germ Cell Tumors ? ### Response: Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood central nervous system germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Central Nervous System Germ Cell Tumors ? ### Response: Key Points - There are different types of treatment for patients with childhood central nervous system (CNS) germ cell tumors. - Children with childhood CNS germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Acute Lymphoblastic Leukemia ? ### Response: Key Points - Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Acute Lymphoblastic Leukemia ? ### Response: Signs of childhood ALL include fever and bruising. These and other signs and symptoms may be caused by childhood ALL or by other conditions. Check with your child's doctor if your child has any of the following: - Fever. - Easy bruising or bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Acute Lymphoblastic Leukemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on: - How quickly and how low the leukemia cell count drops after the first month of treatment. - Age at the time of diagnosis, gender, race, and ethnic background. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Acute Lymphoblastic Leukemia ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Acute Lymphoblastic Leukemia? ? ### Response: Key Points Past treatment for cancer and certain genetic conditions affect the risk of having childhood ALL. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Acute Lymphoblastic Leukemia ? ### Response: Key Points - There are different types of treatment for childhood acute lymphoblastic leukemia (ALL). - Children with ALL should have their treatment planned by a team of doctors who are experts in treating childhood leukemia. - Children and adolescents may have treatment-related side effects that appear months or years after treatment for acute lymphoblastic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colon Cancer ? ### Response: Key Points - Colon cancer is a disease in which malignant (cancer) cells form in the tissues of the colon. - Health history affects the risk of developing colon cancer. - Signs of colon cancer include blood in the stool or a change in bowel habits. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Colon Cancer? ? ### Response: Health history affects the risk of developing colon cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Colon Cancer ? ### Response: Signs of colon cancer include blood in the stool or a change in bowel habits. These and other signs and symptoms may be caused by colon cancer or by other conditions. Check with your doctor if you have any of the following: - A change in bowel habits. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Colon Cancer ? ### Response: Tests that examine the colon and rectum are used to detect (find) and diagnose colon cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Colon Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether the cancer is in the inner lining of the colon only or has spread through the colon wall, or has spread to lymph nodes or other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Colon Cancer ? ### Response: Key Points - After colon cancer has been diagnosed, tests are done to find out if cancer cells have spread within the colon or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Colon Cancer ? ### Response: Key Points - There are different types of treatment for patients with colon cancer. - Six types of standard treatment are used: - Surgery - Radiofrequency ablation - Cryosurgery - Chemotherapy - Radiation therapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Colon Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelodysplastic/ Myeloproliferative Neoplasms ? ### Response: Key Points - Myelodysplastic/myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many white blood cells. - Myelodysplastic/myeloproliferative neoplasms have features of both myelodysplastic syndromes and myeloproliferative neoplasms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Myelodysplastic/ Myeloproliferative Neoplasms ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic/myeloproliferative neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease such as an enlarged spleen and liver. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Myelodysplastic/ Myeloproliferative Neoplasms ? ### Response: Key Points - There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myelodysplastic/ Myeloproliferative Neoplasms ? ### Response: Key Points - There are different types of treatment for patients with myelodysplastic/myeloproliferative neoplasms. - Five types of standard treatment are used: - Chemotherapy - Other drug therapy - Stem cell transplant - Supportive care - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Soft Tissue Sarcoma ? ### Response: Key Points - Adult soft tissue sarcoma is a disease in which malignant (cancer) cells form in the soft tissues of the body. - Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. - A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Soft Tissue Sarcoma? ? ### Response: Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Soft Tissue Sarcoma ? ### Response: A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the body. A sarcoma may appear as a painless lump under the skin, often on an arm or a leg. Sarcomas that begin in the abdomen may not cause signs or symptoms until they get very big. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Soft Tissue Sarcoma ? ### Response: Adult soft tissue sarcoma is diagnosed with a biopsy. If your doctor thinks you may have a soft tissue sarcoma, a biopsy will be done. The type of biopsy will be based on the size of the tumor and where it is in the body. There are three types of biopsy that may be used: - Incisional biopsy : The removal of part of a lump or a sample of tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Soft Tissue Sarcoma ? ### Response: Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The type of soft tissue sarcoma. - The size, grade, and stage of the tumor. - How fast the cancer cells are growing and dividing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Soft Tissue Sarcoma ? ### Response: Key Points - After adult soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread within the soft tissue or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adult Soft Tissue Sarcoma ? ### Response: Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult Soft Tissue Sarcoma ? ### Response: Key Points - There are different types of treatment for patients with adult soft tissue sarcoma. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Hodgkin Lymphoma ? ### Response: Key Points - Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two types of childhood Hodgkin lymphoma. - Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Hodgkin Lymphoma? ? ### Response: Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Hodgkin Lymphoma ? ### Response: Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by childhood Hodgkin lymphoma or by other conditions. Check with your child's doctor if your child has any of the following: - Painless, swollen lymph nodes near the collarbone or in the neck, chest, underarm, or groin. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Hodgkin Lymphoma ? ### Response: Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Hodgkin Lymphoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The size of the tumor. - Whether there are B symptoms at diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Hodgkin Lymphoma ? ### Response: Key Points - After childhood Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of childhood Hodgkin lymphoma may include A, B, E, and S. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Hodgkin Lymphoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Hodgkin Lymphoma ? ### Response: Key Points - There are different types of treatment for children with Hodgkin lymphoma. - Children with Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Key Points - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are several types of skin cancer. - Skin cancer is the most common cancer in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Skin Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Key Points - Ovarian, fallopian tube, and primary peritoneal cancers are diseases in which malignant (cancer) cells form in the ovaries, fallopian tubes, or peritoneum. - Ovarian cancer is the leading cause of death from cancer of the female reproductive system. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Response: Key Points - Pancreatic neuroendocrine tumors form in hormone-making cells (islet cells) of the pancreas. - Pancreatic NETs may or may not cause signs or symptoms. - There are different kinds of functional pancreatic NETs. - Having certain syndromes can increase the risk of pancreatic NETs. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)? ? ### Response: Having certain syndromes can increase the risk of pancreatic NETs. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Response: Lab tests and imaging tests are used to detect (find) and diagnose pancreatic NETs. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. Pancreatic NETs can often be cured. The prognosis (chance of recovery) and treatment options depend on the following: - The type of cancer cell. - Where the tumor is found in the pancreas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Response: Key Points - The plan for cancer treatment depends on where the NET is found in the pancreas and whether it has spread. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Response: Key Points - There are different types of treatment for patients with pancreatic NETs. - Six types of standard treatment are used: - Surgery - Chemotherapy - Hormone therapy - Hepatic arterial occlusion or chemoembolization - Targeted therapy - Supportive care - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langerhans Cell Histiocytosis ? ### Response: Key Points - Langerhans cell histiocytosis is a type of cancer that can damage tissue or cause lesions to form in one or more places in the body. - Family history or having a parent who was exposed to certain chemicals may increase the risk of LCH. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Langerhans Cell Histiocytosis? ? ### Response: Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Langerhans Cell Histiocytosis ? ### Response: These and other signs and symptoms may be caused by LCH or by other conditions. Check with your doctor if you or your child have any of the following: Skin and nails LCH in infants may affect the skin only. In some cases, skin-only LCH may get worse over weeks or months and become a form called high-risk multisystem LCH. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Langerhans Cell Histiocytosis ? ### Response: The following tests and procedures may be used to detect (find) and diagnose LCH or conditions caused by LCH: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Langerhans Cell Histiocytosis ? ### Response: LCH in organs such as the skin, bones, lymph nodes, or pituitary gland usually gets better with treatment and is called ""low- risk"". LCH in the spleen, liver, or bone marrow is harder to treat and is called ""high-risk"". The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are mutations of the BRAF gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Langerhans Cell Histiocytosis ? ### Response: Key Points - There is no staging system for Langerhans cell histiocytosis (LCH). - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected. There is no staging system for Langerhans cell histiocytosis (LCH). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Langerhans Cell Histiocytosis ? ### Response: Key Points - There are different types of treatment for patients with Langerhans cell histiocytosis (LCH). - Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Langerhans Cell Histiocytosis ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laryngeal Cancer ? ### Response: Key Points - Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. - Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer. - Signs and symptoms of laryngeal cancer include a sore throat and ear pain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Laryngeal Cancer? ? ### Response: Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer.Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laryngeal Cancer ? ### Response: Signs and symptoms of laryngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by laryngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat or cough that does not go away. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Laryngeal Cancer ? ### Response: Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer.The following tests and procedures may be used: - Physical exam of the throat and neck: An exam to check the throat and neck for abnormal areas. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Laryngeal Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the disease. - The location and size of the tumor. - The grade of the tumor. - The patient's age, gender, and general health, including whether the patient is anemic. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Laryngeal Cancer ? ### Response: Key Points - After laryngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the larynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Laryngeal Cancer ? ### Response: Key Points - There are different types of treatment for patients with laryngeal cancer. - Three types of standard treatment are used: - Radiation therapy - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Laryngeal Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liver (Hepatocellular) Cancer ? ### Response: Key Points - Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - Liver cancer is not common in the United States. - Being infected with certain types of the hepatitis virus can cause hepatitis and increase the risk of liver cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Liver (Hepatocellular) Cancer? ? ### Response: Being infected with certain types of the hepatitis virus can cause hepatitis and increase the risk of liver cancer. Hepatitis is most commonly caused by the hepatitis virus. Hepatitis is a disease that causes inflammation (swelling) of the liver. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Liver (Hepatocellular) Cancer ? ### Response: Key Points - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors may increase the risk of liver cancer: - Hepatitis B and C - Cirrhosis - Aflatoxin - The following protective factor may decrease the risk of liver cancer: - Hepatitis B vaccine - Cancer prevention clinical trials are used to study ways to prevent cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Liver (Hepatocellular) Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastrointestinal Carcinoid Tumors ? ### Response: Key Points - A gastrointestinal carcinoid tumor is cancer that forms in the lining of the gastrointestinal tract. - Health history can affect the risk of gastrointestinal carcinoid tumors. - Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gastrointestinal Carcinoid Tumors? ? ### Response: Health history can affect the risk of gastrointestinal carcinoid tumors. Anything that increases a person's chance of developing a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastrointestinal Carcinoid Tumors ? ### Response: Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages.Signs and symptoms may be caused by the growth of the tumor and/or the hormones the tumor makes. Some tumors, especially tumors of the stomach or appendix, may not cause signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gastrointestinal Carcinoid Tumors ? ### Response: Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose gastrointestinal carcinoid tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Gastrointestinal Carcinoid Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the tumor is in the gastrointestinal tract. - The size of the tumor. - Whether the cancer has spread from the stomach and intestines to other parts of the body, such as the liver or lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Gastrointestinal Carcinoid Tumors ? ### Response: Key Points - After a gastrointestinal carcinoid tumor has been diagnosed, tests are done to find out if cancer cells have spread within the stomach and intestines or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gastrointestinal Carcinoid Tumors ? ### Response: Key Points - There are different types of treatment for patients with gastrointestinal carcinoid tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Treatment for carcinoid syndrome may also be needed. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroblastoma ? ### Response: Key Points - Neuroblastoma is a disease in which malignant (cancer) cells form in neuroblasts (immature nerve tissue) in the adrenal gland, neck, chest, or spinal cord. - Neuroblastoma is sometimes caused by a gene mutation (change) passed from the parent to the child. " "Below is an instruction from Human. Write a response. ### Instruction: Is Neuroblastoma inherited ? ### Response: Neuroblastoma is sometimes caused by a gene mutation (change) passed from the parent to the child. Gene mutations that increase the risk of neuroblastoma are sometimes inherited (passed from the parent to the child). In children with a gene mutation, neuroblastoma usually occurs at a younger age and more than one tumor may form in the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuroblastoma ? ### Response: Signs and symptoms of neuroblastoma include bone pain and a lump in the abdomen, neck, or chest.The most common signs and symptoms of neuroblastoma are caused by the tumor pressing on nearby tissues as it grows or by cancer spreading to the bone. These and other signs and symptoms may be caused by neuroblastoma or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Neuroblastoma ? ### Response: Tests that examine many different body tissues and fluids are used to detect (find) and diagnose neuroblastoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Neuroblastoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Age of the child at the time of diagnosis. - The child's risk group. - Whether there are certain changes in the genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Neuroblastoma ? ### Response: Key Points - After neuroblastoma has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neuroblastoma ? ### Response: Key Points - There are different types of treatment for patients with neuroblastoma. - Children with neuroblastoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer, especially neuroblastoma. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Neuroblastoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Extracranial Germ Cell Tumors ? ### Response: Key Points - Childhood extracranial germ cell tumors form from germ cells in parts of the body other than the brain. - Childhood extracranial germ cell tumors may be benign or malignant. - There are three types of extracranial germ cell tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Extracranial Germ Cell Tumors ? ### Response: Key Points - Childhood extracranial germ cell tumors form from germ cells in parts of the body other than the brain. - Childhood extracranial germ cell tumors may be benign or malignant. - There are three types of extracranial germ cell tumors. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Extracranial Germ Cell Tumors? ? ### Response: Having certain inherited disorders can increase the risk of an extracranial germ cell tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Extracranial Germ Cell Tumors ? ### Response: Signs of childhood extracranial germ cell tumors depend on the type of tumor and where it is in the body. Different tumors may cause the following signs and symptoms. Other conditions may cause these same signs and symptoms. Check with a doctor if your child has any of the following: - A lump in the abdomen or lower back. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Extracranial Germ Cell Tumors ? ### Response: Imaging studies and blood tests are used to detect (find) and diagnose childhood extracranial germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Extracranial Germ Cell Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The type of germ cell tumor. - Where the tumor first began to grow. - The stage of the cancer (whether it has spread to nearby areas or to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Extracranial Germ Cell Tumors ? ### Response: Key Points - After a childhood extracranial germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread from where the tumor started to nearby areas or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Extracranial Germ Cell Tumors ? ### Response: Key Points - There are different types of treatment for children with extracranial germ cell tumors. - Children with extracranial germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Extracranial Germ Cell Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Small Cell Lung Cancer ? ### Response: Key Points - Small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are two main types of small cell lung cancer. - Smoking is the major risk factor for small cell lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Small Cell Lung Cancer? ? ### Response: Smoking is the major risk factor for small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Small Cell Lung Cancer ? ### Response: Signs and symptoms of small cell lung cancer include coughing, shortness of breath, and chest pain. These and other signs and symptoms may be caused by small cell lung cancer or by other conditions. Check with your doctor if you have any of the following: - Chest discomfort or pain. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Small Cell Lung Cancer ? ### Response: Tests and procedures that examine the lungs are used to detect (find), diagnose, and stage small cell lung cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Small Cell Lung Cancer ? ### Response: Key Points - After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Small Cell Lung Cancer ? ### Response: Key Points - There are different types of treatment for patients with small cell lung cancer. - Five types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - Laser therapy - Endoscopic stent placement - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Small Cell Lung Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Retinoblastoma ? ### Response: Key Points - Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina. - Retinoblastoma occurs in heritable and nonheritable forms. - Treatment for both forms of retinoblastoma should include genetic counseling. " "Below is an instruction from Human. Write a response. ### Instruction: Is Retinoblastoma inherited ? ### Response: Retinoblastoma occurs in heritable and nonheritable forms. A child is thought to have the heritable form of retinoblastoma when one of the following is true: - There is a family history of retinoblastoma. - There is a certain mutation (change) in the RB1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Retinoblastoma? ? ### Response: A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers. A child with heritable retinoblastoma has an increased risk of a pineal tumor in the brain. When retinoblastoma and a brain tumor occur at the same time, it is called trilateral retinoblastoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinoblastoma ? ### Response: These and other signs and symptoms may be caused by retinoblastoma or by other conditions. Check with a doctor if your child has any of the following: - Pupil of the eye appears white instead of red when light shines into it. This may be seen in flash photographs of the child. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Retinoblastoma ? ### Response: The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Retinoblastoma ? ### Response: The prognosis (chance of recovery) and treatment options depend on the following: - Whether the cancer is in one or both eyes. - The size and number of tumors. - Whether the tumor has spread to the area around the eye, to the brain, or to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Retinoblastoma ? ### Response: Key Points - After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body. - The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Retinoblastoma ? ### Response: Key Points - There are different types of treatment for patients with retinoblastoma. - Children with retinoblastoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Retinoblastoma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Key Points - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are different types of cancer that start in the skin. - Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Skin Cancer? ? ### Response: Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Skin Cancer ? ### Response: Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used: - Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Skin Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends mostly on the stage of the cancer and the type of treatment used to remove the cancer. Treatment options depend on the following: - The stage of the cancer (whether it has spread deeper into the skin or to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Skin Cancer ? ### Response: Key Points - After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Skin Cancer ? ### Response: Key Points - There are different types of treatment for patients with nonmelanoma skin cancer and actinic keratosis. - Six types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Photodynamic therapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Skin Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Treatment for skin cancer may cause side effects. For information about side effects caused by treatment for cancer, see our Side Effects page. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salivary Gland Cancer ? ### Response: Key Points - Salivary gland cancer is a rare disease in which malignant (cancer) cells form in the tissues of the salivary glands. - Being exposed to certain types of radiation may increase the risk of salivary cancer. - Signs of salivary gland cancer include a lump or trouble swallowing. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Salivary Gland Cancer? ? ### Response: Being exposed to certain types of radiation may increase the risk of salivary cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Salivary Gland Cancer ? ### Response: Signs of salivary gland cancer include a lump or trouble swallowing. Salivary gland cancer may not cause any symptoms. It may be found during a regular dental check-up or physical exam. Signs and symptoms may be caused by salivary gland cancer or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Salivary Gland Cancer ? ### Response: Tests that examine the head, neck, and the inside of the mouth are used to detect (find) and diagnose salivary gland cancer. The following procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. The head, neck, mouth, and throat will be checked for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Salivary Gland Cancer ? ### Response: Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The stage of the cancer (especially the size of the tumor). - The type of salivary gland the cancer is in. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Salivary Gland Cancer ? ### Response: Key Points - After salivary gland cancer has been diagnosed, tests are done to find out if cancer cells have spread within the salivary gland or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Salivary Gland Cancer ? ### Response: Key Points - There are different types of treatment for patients with salivary gland cancer. - Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Salivary Gland Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urethral Cancer ? ### Response: Key Points - Urethral cancer is a disease in which malignant (cancer) cells form in the tissues of the urethra. - There are different types of urethral cancer that begin in cells that line the urethra. - A history of bladder cancer can affect the risk of urethral cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urethral Cancer ? ### Response: Signs of urethral cancer include bleeding or trouble with urination. These and other signs and symptoms may be caused by urethral cancer or by other conditions. There may be no signs or symptoms in the early stages. Check with your doctor if you have any of the following: - Trouble starting the flow of urine. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urethral Cancer ? ### Response: Tests that examine the urethra and bladder are used to detect (find) and diagnose urethral cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Urethral Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the cancer formed in the urethra. - Whether the cancer has spread through the mucosa lining the urethra to nearby tissue, to lymph nodes, or to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Urethral Cancer ? ### Response: Key Points - After urethral cancer has been diagnosed, tests are done to find out if cancer cells have spread within the urethra or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urethral Cancer ? ### Response: Key Points - There are different types of treatment for patients with urethral cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Active surveillance - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Urethral Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parathyroid Cancer ? ### Response: Key Points - Parathyroid cancer is a rare disease in which malignant (cancer) cells form in the tissues of a parathyroid gland. - Having certain inherited disorders can increase the risk of developing parathyroid cancer. - Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parathyroid Cancer? ? ### Response: Having certain inherited disorders can increase the risk of developing parathyroid cancer. Anything that increases the chance of getting a disease is called a risk factor. Risk factors for parathyroid cancer include the following rare disorders that are inherited (passed down from parent to child): - Familial isolated hyperparathyroidism (FIHP). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parathyroid Cancer ? ### Response: Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. Most parathyroid cancer signs and symptoms are caused by the hypercalcemia that develops. Signs and symptoms of hypercalcemia include the following: - Weakness. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parathyroid Cancer ? ### Response: Tests that examine the neck and blood are used to detect (find) and diagnose parathyroid cancer. Once blood tests are done and hyperparathyroidism is diagnosed, imaging tests may be done to help find which of the parathyroid glands is overactive. Sometimes the parathyroid glands are hard to find and imaging tests are done to find exactly where they are. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Parathyroid Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the calcium level in the blood can be controlled. - The stage of the cancer. - Whether the tumor and the capsule around the tumor can be completely removed by surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Parathyroid Cancer ? ### Response: Key Points - After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parathyroid Cancer ? ### Response: Key Points - There are different types of treatment for patients with parathyroid cancer. - Treatment includes control of hypercalcemia (too much calcium in the blood) in patients who have an overactive parathyroid gland. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Supportive care - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Parathyroid Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Neutrophilic Leukemia ? ### Response: Chronic neutrophilic leukemia is a disease in which too many blood stem cells become a type of white blood cell called neutrophils. Neutrophils are infection -fighting blood cells that surround and destroy dead cells and foreign substances (such as bacteria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Neutrophilic Leukemia ? ### Response: Treatment of chronic neutrophilic leukemia may include the following: - Donor bone marrow transplant. - Chemotherapy. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Key Points - Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Colorectal Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: Key Points - Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in both men and women. Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ewing Sarcoma ? ### Response: Key Points - Ewing sarcoma is a type of tumor that forms in bone or soft tissue. - Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. - Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ewing Sarcoma ? ### Response: Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. Procedures that make pictures of the bones and soft tissues and nearby areas help diagnose Ewing sarcoma and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bones and soft tissues is called staging. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ewing Sarcoma ? ### Response: Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. These and other signs and symptoms may be caused by Ewing sarcoma or by other conditions. Check with your childs doctor if your child has any of the following: - Pain and/or swelling, usually in the arms, legs, chest, back, or pelvis. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Ewing Sarcoma ? ### Response: Certain factors affect prognosis (chance of recovery). The factors that affect prognosis (chance of recovery) are different before and after treatment. Before treatment, prognosis depends on: - Whether the tumor has spread to lymph nodes or distant parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Ewing Sarcoma ? ### Response: Key Points - The results of diagnostic and staging tests are used to find out if cancer cells have spread. - Ewing sarcoma is described based on whether the cancer has spread from the bone or soft tissue in which the cancer began. - Localized Ewing sarcoma - Metastatic Ewing sarcoma - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ewing Sarcoma ? ### Response: Key Points - There are different types of treatment for children with Ewing sarcoma. - Children with Ewing sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for Ewing sarcoma may cause side effects. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ewing Sarcoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kaposi Sarcoma ? ### Response: Key Points - Kaposi sarcoma is a disease in which malignant tumors (cancer) can form in the skin, mucous membranes, lymph nodes, and other organs. - Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kaposi Sarcoma ? ### Response: Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking skin and lymph nodes for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Kaposi Sarcoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kaposi Sarcoma ? ### Response: Key Points - There are different types of treatment for patients with Kaposi sarcoma. - Treatment of epidemic Kaposi sarcoma combines treatment for Kaposi sarcoma with treatment for AIDS. - Four types of standard treatment are used to treat Kaposi sarcoma: - Radiation therapy - Surgery - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Primary Liver Cancer ? ### Response: Key Points - Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - There are two types of adult primary liver cancer. - Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Primary Liver Cancer? ? ### Response: Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Primary Liver Cancer ? ### Response: Signs and symptoms of adult primary liver cancer include a lump or pain on the right side. These and other signs and symptoms may be caused by adult primary liver cancer or by other conditions. Check with your doctor if you have any of the following: - A hard lump on the right side just below the rib cage. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Primary Liver Cancer ? ### Response: Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Primary Liver Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor, whether it affects part or all of the liver, or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Primary Liver Cancer ? ### Response: Key Points - After adult primary liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adult Primary Liver Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Ependymoma ? ### Response: Key Points - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. - There are different types of ependymomas. - The part of the brain that is affected depends on where the ependymoma forms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Ependymoma ? ### Response: Key Points - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. - There are different types of ependymomas. - The part of the brain that is affected depends on where the ependymoma forms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Ependymoma ? ### Response: The signs and symptoms of childhood ependymoma are not the same in every child. Signs and symptoms depend on the following: - The child's age. - Where the tumor has formed. Signs and symptoms may be caused by childhood ependymoma or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Ependymoma ? ### Response: Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Ependymoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - Where the tumor has formed in the central nervous system (CNS). - Whether there are certain changes in the genes or chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Ependymoma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Ependymoma ? ### Response: Key Points - The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Ependymoma ? ### Response: Key Points - There are different types of treatment for children with ependymoma. - Children with ependymoma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. - Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oropharyngeal Cancer ? ### Response: Key Points - Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx. - Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. - Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Oropharyngeal Cancer? ? ### Response: Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oropharyngeal Cancer ? ### Response: Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat. These and other signs and symptoms may be caused by oropharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Oropharyngeal Cancer ? ### Response: Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as swollen lymph nodes in the neck or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Oropharyngeal Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - Whether the patient has HPV infection of the oropharynx. - Whether the patient has a history of smoking cigarettes for ten or more pack years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Oropharyngeal Cancer ? ### Response: Key Points - After oropharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the oropharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oropharyngeal Cancer ? ### Response: Key Points - There are different types of treatment for patients with oropharyngeal cancer. - Patients with oropharyngeal cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Oropharyngeal Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Craniopharyngioma ? ### Response: Key Points - Childhood craniopharyngiomas are benign brain tumors found near the pituitary gland. - There are no known risk factors for childhood craniopharyngioma. - Signs of childhood craniopharyngioma include vision changes and slow growth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Craniopharyngioma ? ### Response: Key Points - Childhood craniopharyngiomas are benign brain tumors found near the pituitary gland. - There are no known risk factors for childhood craniopharyngioma. - Signs of childhood craniopharyngioma include vision changes and slow growth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Craniopharyngioma ? ### Response: Signs of childhood craniopharyngioma include vision changes and slow growth. These and other signs and symptoms may be caused by craniopharyngiomas or by other conditions. Check with your childs doctor if your child has any of the following: - Headaches, including morning headache or headache that goes away after vomiting. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Craniopharyngioma ? ### Response: Tests that examine the brain, vision, and hormone levels are used to detect (find) childhood craniopharyngiomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Craniopharyngioma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Craniopharyngioma ? ### Response: The process used to find out if cancer has spread within the brain or to other parts of the body is called staging. There is no standard system for staging childhood craniopharyngioma. Craniopharyngioma is described as newly diagnosed disease or recurrent disease. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Craniopharyngioma ? ### Response: Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Craniopharyngioma ? ### Response: Key Points - There are different types of treatment for children with craniopharyngioma. - Children with craniopharyngioma should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: Key Points - Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter. - Misuse of certain pain medicines can affect the risk of transitional cell cancer of the renal pelvis and ureter. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain. These and other signs and symptoms may be caused by transitional cell cancer of the renal pelvis and ureter or by other conditions. There may be no signs or symptoms in the early stages. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: Tests that examine the abdomen and kidneys are used to detect (find) and diagnose transitional cell cancer of the renal pelvis and ureter. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the stage and grade of the tumor. The treatment options depend on the following: - The stage and grade of the tumor. - Where the tumor is. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: Key Points - After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: Key Points - There are different types of treatment for patients with transitional cell cancer of the renal pelvis and ureter. - One type of standard treatment is used: - Surgery - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Vascular Tumors ? ### Response: Key Points - Childhood vascular tumors form from cells that make blood vessels or lymph vessels. - Tests are used to detect (find) and diagnose childhood vascular tumors. - Childhood vascular tumors may be classified into four groups. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Vascular Tumors ? ### Response: Tests are used to detect (find) and diagnose childhood vascular tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps, lesions, or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Vascular Tumors ? ### Response: Key Points - There are different types of treatment for childhood vascular tumors. - Children with childhood vascular tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Vascular Tumors ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycythemia Vera ? ### Response: Key Points - Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. - Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. - Special blood tests are used to diagnose polycythemia vera. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycythemia Vera ? ### Response: Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. Polycythemia vera often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may occur as the number of blood cells increases. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Polycythemia Vera ? ### Response: Special blood tests are used to diagnose polycythemia vera. In addition to a complete blood count, bone marrow aspiration and biopsy, and cytogenetic analysis, a serum erythropoietin test is used to diagnose polycythemia vera. In this test, a sample of blood is checked for the level of erythropoietin (a hormone that stimulates new red blood cells to be made). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Polycythemia Vera ? ### Response: The purpose of treatment for polycythemia vera is to reduce the number of extra blood cells. Treatment of polycythemia vera may include the following: - Phlebotomy. - Chemotherapy with or without phlebotomy. - Biologic therapy using interferon alfa or pegylated interferon alpha. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vulvar Cancer ? ### Response: Key Points - Vulvar cancer is a rare disease in which malignant (cancer) cells form in the tissues of the vulva. - Having vulvar intraepithelial neoplasia or HPV infection can affect the risk of vulvar cancer. - Signs of vulvar cancer include bleeding or itching. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vulvar Cancer ? ### Response: Signs of vulvar cancer include bleeding or itching. Vulvar cancer often does not cause early signs or symptoms. Signs and symptoms may be caused by vulvar cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or growth on the vulva. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Vulvar Cancer ? ### Response: Tests that examine the vulva are used to detect (find) and diagnose vulvar cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking the vulva for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Vulvar Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Vulvar Cancer ? ### Response: Key Points - After vulvar cancer has been diagnosed, tests are done to find out if cancer cells have spread within the vulva or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Vulvar Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vulvar Cancer ? ### Response: Key Points - There are different types of treatment for patients with vulvar cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rectal Cancer ? ### Response: Key Points - Rectal cancer is a disease in which malignant (cancer) cells form in the tissues of the rectum. - Health history affects the risk of developing rectal cancer. - Signs of rectal cancer include a change in bowel habits or blood in the stool. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Rectal Cancer? ? ### Response: Health history affects the risk of developing rectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rectal Cancer ? ### Response: Signs of rectal cancer include a change in bowel habits or blood in the stool. These and other signs and symptoms may be caused by rectal cancer or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Rectal Cancer ? ### Response: Tests that examine the rectum and colon are used to detect (find) and diagnose rectal cancer. Tests used to diagnose rectal cancer include the following: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Rectal Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects the inner lining of the rectum only, involves the whole rectum, or has spread to lymph nodes, nearby organs, or other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Rectal Cancer ? ### Response: Key Points - After rectal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the rectum or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rectal Cancer ? ### Response: Key Points - There are different types of treatment for patients with rectal cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Active surveillance - Targeted therapy - Other types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Rectal Cancer ? ### Response: Other types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the second most common cancer among men in the United States. Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Prostate cancer is most common in older men. In the U.S., about one out of five men will be diagnosed with prostate cancer. Most men diagnosed with prostate cancer do not die of it. See the following PDQ summaries for more information about prostate canc " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Avoiding risk factors and increasing protective factors may help prevent cancer. Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Prostate Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Extragonadal Germ Cell Tumors ? ### Response: Key Points - Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body. - Age and gender can affect the risk of extragonadal germ cell tumors. - Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Extragonadal Germ Cell Tumors? ? ### Response: Age and gender can affect the risk of extragonadal germ cell tumors. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Extragonadal Germ Cell Tumors ? ### Response: Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. Malignant extragonadal germ cell tumors may cause signs and symptoms as they grow into nearby areas. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - Chest pain. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Extragonadal Germ Cell Tumors ? ### Response: Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Extragonadal Germ Cell Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is nonseminoma or seminoma. - The size of the tumor and where it is in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Extragonadal Germ Cell Tumors ? ### Response: Key Points - After an extragonadal germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Extragonadal Germ Cell Tumors ? ### Response: Key Points - There are different types of treatment for patients with extragonadal germ cell tumors. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Extragonadal Germ Cell Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? ### Response: Key Points - Childhood acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. - Leukemia and other diseases of the blood and bone marrow may affect red blood cells, white blood cells, and platelets. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies? ? ### Response: The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood AML, childhood CML, JMML, and MDS. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for childhood AML depend on the following: - The age of the child when the cancer is diagnosed. - The race or ethnic group of the child. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? ### Response: Key Points - Once childhood acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. - There is no standard staging system for childhood AML, childhood chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? ### Response: Key Points - There are different types of treatment for children with acute myeloid leukemia (AML), chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS). - Treatment is planned by a team of health care providers who are experts in treating childhood leukemia and other diseases of the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallbladder Cancer ? ### Response: Key Points - Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder. - Being female can increase the risk of developing gallbladder cancer. - Signs and symptoms of gallbladder cancer include jaundice, fever, and pain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gallbladder Cancer? ? ### Response: Being female can increase the risk of developing gallbladder cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gallbladder Cancer ? ### Response: Signs and symptoms of gallbladder cancer include jaundice, fever, and pain. These and other signs and symptoms may be caused by gallbladder cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin and whites of the eyes). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gallbladder Cancer ? ### Response: Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer. Procedures that make pictures of the gallbladder and the area around it help diagnose gallbladder cancer and show how far the cancer has spread. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Gallbladder Cancer ? ### Response: Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether the cancer has spread from the gallbladder to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Gallbladder Cancer ? ### Response: Key Points - Tests and procedures to stage gallbladder cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gallbladder Cancer ? ### Response: Key Points - There are different types of treatment for patients with gallbladder cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gallbladder Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? ### Response: Key Points - Central nervous system atypical teratoid/rhabdoid tumor is a disease in which malignant (cancer) cells form in the tissues of the brain. - Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor? ? ### Response: Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? ### Response: Tests that examine the brain and spinal cord are used to detect (find) CNS atypical teratoid/rhabdoid tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are certain inherited gene changes. - The age of the child. - The amount of tumor remaining after surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? ### Response: Key Points - There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? ### Response: Key Points - There are different types of treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. - Children with atypical teratoid/rhabdoid tumor should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Merkel Cell Carcinoma ? ### Response: Key Points - Merkel cell carcinoma is a very rare disease in which malignant (cancer) cells form in the skin. - Sun exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. - Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Merkel Cell Carcinoma? ? ### Response: un exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Merkel Cell Carcinoma ? ### Response: Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. This and other changes in the skin may be caused by Merkel cell carcinoma or by other conditions. Check with your doctor if you see changes in your skin. Merkel cell carcinoma usually appears on sun-exposed skin as a single lump that is: - Fast-growing. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Merkel Cell Carcinoma ? ### Response: Tests and procedures that examine the skin are used to detect (find) and diagnose Merkel cell carcinoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Merkel Cell Carcinoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it has spread to the lymph nodes or other parts of the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Merkel Cell Carcinoma ? ### Response: Key Points - After Merkel cell carcinoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Merkel Cell Carcinoma ? ### Response: Key Points - There are different types of treatment for patients with Merkel cell carcinoma. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Merkel Cell Carcinoma ? ### Response: New types of treatment are being tested in clinical trials. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Melanoma ? ### Response: Key Points - Melanoma is a disease in which malignant (cancer) cells form in melanocytes (cells that color the skin). - There are different types of cancer that start in the skin. - Melanoma can occur anywhere on the skin. - Unusual moles, exposure to sunlight, and health history can affect the risk of melanoma. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Melanoma? ? ### Response: Unusual moles, exposure to sunlight, and health history can affect the risk of melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Melanoma ? ### Response: Signs of melanoma include a change in the way a mole or pigmented area looks. These and other signs and symptoms may be caused by melanoma or by other conditions. Check with your doctor if you have any of the following: - A mole that: - changes in size, shape, or color. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Melanoma ? ### Response: Tests that examine the skin are used to detect (find) and diagnose melanoma. If a mole or pigmented area of the skin changes or looks abnormal, the following tests and procedures can help find and diagnose melanoma: - Skin exam: A doctor or nurse checks the skin for moles, birthmarks, or other pigmented areas that look abnormal in color, size, shape, or texture. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Melanoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The thickness of the tumor and where it is in the body. - How quickly the cancer cells are dividing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Melanoma ? ### Response: Key Points - After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Melanoma ? ### Response: Key Points - There are different types of treatment for patients with melanoma. - Five types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - Immunotherapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Melanoma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website Treatment for melanoma may cause side effects. For information about side effects caused by treatment for cancer, see our Side Effects page. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Liver Cancer ? ### Response: Key Points - Childhood liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - There are different types of childhood liver cancer. - Certain diseases and disorders can increase the risk of childhood liver cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Liver Cancer? ? ### Response: Certain diseases and disorders can increase the risk of childhood liver cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Liver Cancer ? ### Response: Signs and symptoms of childhood liver cancer include a lump or pain in the abdomen. Signs and symptoms are more common after the tumor gets big. Other conditions can cause the same signs and symptoms. Check with your childs doctor if your child has any of the following: - A lump in the abdomen that may be painful. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Liver Cancer ? ### Response: Tests that examine the liver and the blood are used to detect (find) and diagnose childhood liver cancer and find out whether the cancer has spread. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Liver Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for hepatoblastoma depend on the following: - The PRETEXT or POSTTEXT group. - Whether the cancer has spread to other places in the body, such as the lungs or certain large blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Liver Cancer ? ### Response: Key Points - There are different types of treatment for patients with childhood liver cancer. - Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Liver Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endometrial Cancer ? ### Response: Key Points - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - Endometrial cancer is the most common invasive cancer of the female reproductive system. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Endometrial Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: Key Points - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Breast cancer is the second leading cause of death from cancer in American women. - Different factors increase or decrease the risk of breast cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: Different factors increase or decrease the risk of breast cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for breast cancer, see the PDQ summary on Breast Cancer Prevention. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Breast Cancer ? ### Response: Other screening tests are being studied in clinical trials. Thermography Thermography is a procedure in which a special camera that senses heat is used to record the temperature of the skin that covers the breasts. A computer makes a map of the breast showing the changes in temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ? ### Response: Key Points - Ovarian, fallopian tube, and primary peritoneal cancers are diseases in which malignant (cancer) cells form in the ovaries, fallopian tubes, or peritoneum. - In the United States, ovarian cancer is the fifth leading cause of cancer death in women. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer? ? ### Response: Different factors increase or decrease the risk of getting ovarian, fallopian tube, and primary peritoneal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Central Nervous System Embryonal Tumors ? ### Response: Key Points - Central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. - There are different types of CNS embryonal tumors. - Pineoblastomas form in cells of the pineal gland. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Central Nervous System Embryonal Tumors? ? ### Response: Certain genetic conditions increase the risk of childhood CNS embryonal tumors. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Central Nervous System Embryonal Tumors ? ### Response: Signs and symptoms of childhood CNS embryonal tumors or pineoblastomas depend on the child's age and where the tumor is. These and other signs and symptoms may be caused by childhood CNS embryonal tumors, pineoblastomas, or other conditions. Check with your child's doctor if your child has any of the following: - Loss of balance, trouble walking, worsening handwriting, or slow speech. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Central Nervous System Embryonal Tumors ? ### Response: Tests that examine the brain and spinal cord are used to detect (find) childhood CNS embryonal tumors or pineoblastomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Central Nervous System Embryonal Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of tumor and where it is in the brain. - Whether the cancer has spread within the brain and spinal cord when the tumor is found. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Central Nervous System Embryonal Tumors ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Central Nervous System Embryonal Tumors ? ### Response: Key Points - There are different types of treatment for children who have central nervous system (CNS) embryonal tumors. - Children who have CNS embryonal tumors should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Essential Thrombocythemia ? ### Response: Key Points - Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow. - Patients with essential thrombocythemia may have no signs or symptoms. - Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Essential Thrombocythemia ? ### Response: Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Essential Thrombocythemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. Prognosis (chance of recovery) and treatment options depend on the following: - The age of the patient. - Whether the patient has signs or symptoms or other problems related to essential thrombocythemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Essential Thrombocythemia ? ### Response: Treatment of essential thrombocythemia in patients younger than 60 years who have no signs or symptoms and an acceptable platelet count is usually watchful waiting. Treatment of other patients may include the following: - Chemotherapy. - Anagrelide therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gestational Trophoblastic Disease ? ### Response: Key Points - Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception. - Hydatidiform mole (HM) is the most common type of GTD. - Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gestational Trophoblastic Disease? ? ### Response: Age and a previous molar pregnancy affect the risk of GTD. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gestational Trophoblastic Disease ? ### Response: Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal. These and other signs and symptoms may be caused by gestational trophoblastic disease or by other conditions. Check with your doctor if you have any of the following: - Vaginal bleeding not related to menstruation. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gestational Trophoblastic Disease ? ### Response: Tests that examine the uterus are used to detect (find) and diagnose gestational trophoblastic disease. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Gestational Trophoblastic Disease ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease usually can be cured. Treatment and prognosis depend on the following: - The type of GTD. - Whether the tumor has spread to the uterus, lymph nodes, or distant parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Gestational Trophoblastic Disease ? ### Response: Key Points - After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gestational Trophoblastic Disease ? ### Response: Key Points - There are different types of treatment for patients with gestational trophoblastic disease. - Three types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gestational Trophoblastic Disease ? ### Response: New types of treatment are being tested in clinical trials. Information about ongoing clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Atypical Chronic Myelogenous Leukemia ? ### Response: Key Points - Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atypical Chronic Myelogenous Leukemia ? ### Response: Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. These and other signs and symptoms may be caused by atypical CML or by other conditions. Check with your doctor if you have any of the following: - Shortness of breath. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atypical Chronic Myelogenous Leukemia ? ### Response: Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. These and other signs and symptoms may be caused by atypical CML or by other conditions. Check with your doctor if you have any of the following: - Shortness of breath. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Atypical Chronic Myelogenous Leukemia ? ### Response: Treatment of atypical chronic myelogenous leukemia (CML) may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with atypical chronic myeloid leukemia, BCR-ABL1 negative. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Male Breast Cancer ? ### Response: Key Points - Male breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Male Breast Cancer? ? ### Response: Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Is Male Breast Cancer inherited ? ### Response: Male breast cancer is sometimes caused by inherited gene mutations (changes).The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. " "Below is an instruction from Human. Write a response. ### Instruction: Is Male Breast Cancer inherited ? ### Response: Male breast cancer is sometimes caused by inherited gene mutations (changes).The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Male Breast Cancer ? ### Response: Tests that examine the breasts are used to detect (find) and diagnose breast cancer in men. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Male Breast Cancer ? ### Response: Survival for men with breast cancer is similar to survival for women with breast cancer. Survival for men with breast cancer is similar to that for women with breast cancer when their stage at diagnosis is the same. Breast cancer in men, however, is often diagnosed at a later stage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Male Breast Cancer ? ### Response: Key Points - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Male Breast Cancer ? ### Response: Key Points - There are different types of treatment for men with breast cancer. - Five types of standard treatment are used to treat men with breast cancer: - Surgery - Chemotherapy - Hormone therapy - Radiation therapy - Targeted therapy - Treatment for male breast cancer may cause side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anal Cancer ? ### Response: Key Points - Anal cancer is a disease in which malignant (cancer) cells form in the tissues of the anus. - Squamous cell carcinoma is the most common type of anal cancer. - In the United States, the number of new cases of anal cancer has increased in recent years. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Anal Cancer? ? ### Response: Being infected with the human papillomavirus (HPV) increases the risk of developing anal cancer. Risk factors include the following: - Being infected with human papillomavirus (HPV). - Having many sexual partners. - Having receptive anal intercourse (anal sex). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anal Cancer ? ### Response: Signs of anal cancer include bleeding from the anus or rectum or a lump near the anus. These and other signs and symptoms may be caused by anal cancer or by other conditions. Check with your doctor if you have any of the following: - Bleeding from the anus or rectum. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anal Cancer ? ### Response: Tests that examine the rectum and anus are used to detect (find) and diagnose anal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Anal Cancer ? ### Response: Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The size of the tumor. - Where the tumor is in the anus. - Whether the cancer has spread to the lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Anal Cancer ? ### Response: Key Points - After anal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the anus or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Anal Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Anal Cancer ? ### Response: Key Points - There are different types of treatment for patients with anal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - Having the human immunodeficiency virus can affect treatment of anal cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Non-Hodgkin Lymphoma ? ### Response: Key Points - Childhood non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - The main types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. - There are three major types of childhood non-Hodgkin lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Non-Hodgkin Lymphoma ? ### Response: Signs of childhood non-Hodgkin lymphoma include breathing problems and swollen lymph nodes. These and other signs may be caused by childhood non-Hodgkin lymphoma or by other conditions. Check with a doctor if your child has any of the following: - Trouble breathing. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Non-Hodgkin Lymphoma ? ### Response: Tests that examine the body and lymph system are used to detect (find) and diagnose childhood non-Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Non-Hodgkin Lymphoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of lymphoma. - Where the tumor is in the body when the tumor is diagnosed. - The stage of the cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Non-Hodgkin Lymphoma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Non-Hodgkin Lymphoma ? ### Response: Key Points - After childhood non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Non-Hodgkin Lymphoma ? ### Response: Key Points - There are different types of treatment for children with non-Hodgkin lymphoma. - Children with non-Hodgkin lymphoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer. - Some cancer treatments cause side effects months or years after treatment has ended. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelodysplastic Syndromes ? ### Response: Key Points - Myelodysplastic syndromes are a group of cancers in which immature blood cells in the bone marrow do not mature or become healthy blood cells. - The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myelodysplastic Syndromes ? ### Response: Key Points - There are different types of treatment for patients with myelodysplastic syndromes. - Treatment for myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. - Three types of standard treatment are used: - Supportive care - Drug therapy - Chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal Cell Cancer ? ### Response: Key Points - Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. - Smoking and misuse of certain pain medicines can affect the risk of renal cell cancer. - Signs of renal cell cancer include blood in the urine and a lump in the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Renal Cell Cancer ? ### Response: Key Points - After renal cell cancer has been diagnosed, tests are done to find out if cancer cells have spread within the kidney or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Renal Cell Cancer ? ### Response: Key Points - There are different types of treatment for patients with renal cell cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Renal Cell Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lip and Oral Cavity Cancer ? ### Response: Key Points - Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth. - Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. - Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lip and Oral Cavity Cancer? ? ### Response: Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lip and Oral Cavity Cancer ? ### Response: Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. These and other signs and symptoms may be caused by lip and oral cavity cancer or by other conditions. Check with your doctor if you have any of the following: - A sore on the lip or in the mouth that does not heal. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lip and Oral Cavity Cancer ? ### Response: Tests that examine the mouth and throat are used to detect (find), diagnose, and stage lip and oral cavity cancer. The following tests and procedures may be used: - Physical exam of the lips and oral cavity: An exam to check the lips and oral cavity for abnormal areas. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Lip and Oral Cavity Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer. - Where the tumor is in the lip or oral cavity. - Whether the cancer has spread to blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Lip and Oral Cavity Cancer ? ### Response: Key Points - After lip and oral cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lip and oral cavity or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lip and Oral Cavity Cancer ? ### Response: Key Points - There are different types of treatment for patients with lip and oral cavity cancer. - Patients with lip and oral cavity cancer should have their treatment planned by a team of doctors who are expert in treating head and neck cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Lip and Oral Cavity Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paranasal Sinus and Nasal Cavity Cancer ? ### Response: Key Points - Paranasal sinus and nasal cavity cancer is a disease in which malignant (cancer) cells form in the tissues of the paranasal sinuses and nasal cavity. - Different types of cells in the paranasal sinus and nasal cavity may become malignant. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Paranasal Sinus and Nasal Cavity Cancer? ? ### Response: Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paranasal Sinus and Nasal Cavity Cancer ? ### Response: Signs of paranasal sinus and nasal cavity cancer include sinus problems and nosebleeds. These and other signs and symptoms may be caused by paranasal sinus and nasal cavity cancer or by other conditions. There may be no signs or symptoms in the early stages. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Paranasal Sinus and Nasal Cavity Cancer ? ### Response: Tests that examine the sinuses and nasal cavity are used to detect (find) and diagnose paranasal sinus and nasal cavity cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Paranasal Sinus and Nasal Cavity Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the tumor is in the paranasal sinus or nasal cavity and whether it has spread. - The size of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Paranasal Sinus and Nasal Cavity Cancer ? ### Response: Key Points - After paranasal sinus and nasal cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the paranasal sinuses and nasal cavity or to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paranasal Sinus and Nasal Cavity Cancer ? ### Response: Key Points - There are different types of treatment for patients with paranasal sinus and nasal cavity cancer. - Patients with paranasal sinus and nasal cavity cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Paranasal Sinus and Nasal Cavity Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: Key Points - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Breast cancer is the second most common type of cancer in American women. Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Breast Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Eosinophilic Leukemia ? ### Response: Key Points - Chronic eosinophilic leukemia is a disease in which too many white blood cells (eosinophils) are made in the bone marrow. - Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic Eosinophilic Leukemia ? ### Response: Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. Chronic eosinophilic leukemia may not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by chronic eosinophilic leukemia or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Eosinophilic Leukemia ? ### Response: Treatment of chronic eosinophilic leukemia may include the following: - Bone marrow transplant. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic eosinophilic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: Key Points - Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in the United States. - Different factors increase or decrease the risk of lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lung Cancer? ? ### Response: Different factors increase or decrease the risk of lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for lung cancer, see the PDQ summary on Lung Cancer Prevention. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: Key Points - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - A family history of breast cancer and other factors increase the risk of breast cancer. - Breast cancer is sometimes caused by inherited gene mutations (changes). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: A family history of breast cancer and other factors increase the risk of breast cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Breast Cancer ? ### Response: The use of certain medicines and other factors decrease the risk of breast cancer. Anything that decreases your chance of getting a disease is called a protective factor. Protective factors for breast cancer include the following: - Taking any of the following: - Estrogen-only hormone therapy after a hysterectomy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Breast Cancer inherited ? ### Response: Breast cancer is sometimes caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Breast Cancer ? ### Response: Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Breast Cancer ? ### Response: Tests that examine the breasts are used to detect (find) and diagnose breast cancer. Check with your doctor if you notice any changes in your breasts. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Breast Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the breast only or has spread to lymph nodes or other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Breast Cancer ? ### Response: Key Points - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Key Points - There are different types of treatment for patients with breast cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Breast Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Uterine Sarcoma ? ### Response: Key Points - Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus. - Being exposed to x-rays can increase the risk of uterine sarcoma. - Signs of uterine sarcoma include abnormal bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Uterine Sarcoma? ? ### Response: Being exposed to x-rays can increase the risk of uterine sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Uterine Sarcoma ? ### Response: Signs of uterine sarcoma include abnormal bleeding. Abnormal bleeding from the vagina and other signs and symptoms may be caused by uterine sarcoma or by other conditions. Check with your doctor if you have any of the following: - Bleeding that is not part of menstrual periods. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Uterine Sarcoma ? ### Response: Tests that examine the uterus are used to detect (find) and diagnose uterine sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Uterine Sarcoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type and size of the tumor. - The patient's general health. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Uterine Sarcoma ? ### Response: Key Points - After uterine sarcoma has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. - Uterine sarcoma may be diagnosed, staged, and treated in the same surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Uterine Sarcoma ? ### Response: Key Points - There are different types of treatment for patients with uterine sarcoma. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Uterine Sarcoma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metastatic Squamous Neck Cancer with Occult Primary ? ### Response: Key Points - Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body. - Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metastatic Squamous Neck Cancer with Occult Primary ? ### Response: Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. Check with your doctor if you have a lump or pain in your neck or throat that doesn't go away. These and other signs and symptoms may be caused by metastatic squamous neck cancer with occult primary. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Metastatic Squamous Neck Cancer with Occult Primary ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The number and size of lymph nodes that have cancer in them. - Whether the cancer has responded to treatment or has recurred (come back). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Metastatic Squamous Neck Cancer with Occult Primary ? ### Response: Key Points - After metastatic squamous neck cancer with occult primary has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Metastatic Squamous Neck Cancer with Occult Primary ? ### Response: Key Points - There are different types of treatment for patients with metastatic squamous neck cancer with occult primary. - Two types of standard treatment are used: - Surgery - Radiation therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Metastatic Squamous Neck Cancer with Occult Primary ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endometrial Cancer ? ### Response: Key Points - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - Obesity and having metabolic syndrome may increase the risk of endometrial cancer. - Taking tamoxifen for breast cancer or taking estrogen alone (without progesterone) can increase the risk of endometrial cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Endometrial Cancer? ? ### Response: Obesity and having metabolic syndrome may increase the risk of endometrial cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Endometrial Cancer ? ### Response: Signs and symptoms of endometrial cancer include unusual vaginal bleeding or pain in the pelvis. These and other signs and symptoms may be caused by endometrial cancer or by other conditions. Check with your doctor if you have any of the following: - Vaginal bleeding or discharge not related to menstruation (periods). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Endometrial Cancer ? ### Response: Tests that examine the endometrium are used to detect (find) and diagnose endometrial cancer. Because endometrial cancer begins inside the uterus, it does not usually show up in the results of a Pap test. For this reason, a sample of endometrial tissue must be removed and checked under a microscope to look for cancer cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Endometrial Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Endometrial Cancer ? ### Response: Key Points - After endometrial cancer has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Endometrial Cancer ? ### Response: Key Points - There are different types of treatment for patients with endometrial cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Endometrial Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Soft Tissue Sarcoma ? ### Response: Key Points - Childhood soft tissue sarcoma is a disease in which malignant (cancer) cells form in soft tissues of the body. - Soft tissue sarcoma occurs in children and adults. - Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Soft Tissue Sarcoma? ? ### Response: Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Soft Tissue Sarcoma ? ### Response: The most common sign of childhood soft tissue sarcoma is a painless lump or swelling in soft tissues of the body. A sarcoma may appear as a painless lump under the skin, often on an arm, a leg, or the trunk. There may be no other signs or symptoms at first. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Soft Tissue Sarcoma ? ### Response: Diagnostic tests are used to detect (find) and diagnose childhood soft tissue sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Soft Tissue Sarcoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The part of the body where the tumor first formed. - The size and grade of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Soft Tissue Sarcoma ? ### Response: Key Points - After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Soft Tissue Sarcoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Soft Tissue Sarcoma ? ### Response: Key Points - There are different types of treatment for patients with childhood soft tissue sarcoma. - Children with childhood soft tissue sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Rhabdomyosarcoma? ? ### Response: Certain genetic conditions increase the risk of childhood rhabdomyosarcoma. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Rhabdomyosarcoma ? ### Response: A sign of childhood rhabdomyosarcoma is a lump or swelling that keeps getting bigger. Signs and symptoms may be caused by childhood rhabdomyosarcoma or by other conditions. The signs and symptoms that occur depend on where the cancer forms. Check with your child's doctor if your child has any of the following: - A lump or swelling that keeps getting bigger or does not go away. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Rhabdomyosarcoma ? ### Response: Diagnostic tests and a biopsy are used to detect (find) and diagnose childhood rhabdomyosarcoma. The diagnostic tests that are done depend in part on where the cancer forms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Rhabdomyosarcoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's age. - Where in the body the tumor started. - The size of the tumor at the time of diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Rhabdomyosarcoma ? ### Response: Key Points - After childhood rhabdomyosarcoma has been diagnosed, treatment is based in part on the stage of the cancer and sometimes it is based on whether all the cancer was removed by surgery. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Rhabdomyosarcoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Rhabdomyosarcoma ? ### Response: Key Points - There are different types of treatment for patients with childhood rhabdomyosarcoma. - Children with rhabdomyosarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Non-Hodgkin Lymphoma ? ### Response: Key Points - Adult non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - The major types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. - Non-Hodgkin lymphoma can be indolent or aggressive. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adult Non-Hodgkin Lymphoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Non-Hodgkin Lymphoma? ? ### Response: Age, gender, and a weakened immune system can affect the risk of adult non-Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Non-Hodgkin Lymphoma ? ### Response: Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. These signs and symptoms may be caused by adult non-Hodgkin lymphoma or by other conditions. Check with your doctor if you have any of the following: - Swelling in the lymph nodes in the neck, underarm, groin, or stomach. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Non-Hodgkin Lymphoma ? ### Response: Tests that examine the body and lymph system are used to help detect (find) and diagnose adult non-Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Non-Hodgkin Lymphoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of non-Hodgkin lymphoma. - The amount of lactate dehydrogenase (LDH) in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Non-Hodgkin Lymphoma ? ### Response: Key Points - After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of adult non-Hodgkin lymphoma may include E and S. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult Non-Hodgkin Lymphoma ? ### Response: Key Points - There are different types of treatment for patients with non-Hodgkin lymphoma. - Patients with non-Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating lymphomas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Brain and Spinal Cord Tumors ? ### Response: Key Points - A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. - The brain controls many important body functions. - The spinal cord connects the brain with nerves in most parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Brain and Spinal Cord Tumors ? ### Response: Key Points - A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. - The brain controls many important body functions. - The spinal cord connects the brain with nerves in most parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Brain and Spinal Cord Tumors ? ### Response: The signs and symptoms of childhood brain and spinal cord tumors are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - The size of the tumor. - How fast the tumor grows. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Brain and Spinal Cord Tumors ? ### Response: Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Brain and Spinal Cord Tumors ? ### Response: Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - Whether there are any cancer cells left after surgery. - The type of tumor. - Where the tumor is in the body. - The child's age. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Brain and Spinal Cord Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Brain and Spinal Cord Tumors ? ### Response: Key Points - There are different types of treatment for children with brain and spinal cord tumors. - Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endometrial Cancer ? ### Response: Key Points - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - In the United States, endometrial cancer is the most common invasive cancer of the female reproductive system. - Health history and certain medicines can affect the risk of developing endometrial cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Endometrial Cancer? ? ### Response: Health history and certain medicines can affect the risk of developing endometrial cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Wilms Tumor and Other Childhood Kidney Tumors? ? ### Response: Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wilms Tumor and Other Childhood Kidney Tumors ? ### Response: Signs of Wilms tumor and other childhood kidney tumors include a lump in the abdomen and blood in the urine. Sometimes childhood kidney tumors do not cause signs and symptoms and the parent finds a mass in the abdomen by chance or the mass is found during a well-child health check up. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Wilms Tumor and Other Childhood Kidney Tumors ? ### Response: Tests are used to screen for Wilms tumor. Screening tests are done in children with an increased risk of Wilms tumor. These tests may help find cancer early and decrease the chance of dying from cancer. In general, children with an increased risk of Wilms tumor should be screened for Wilms tumor every three months until they are at least 8 years old. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Wilms Tumor and Other Childhood Kidney Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for Wilms tumor depend on the following: - How different the tumor cells are from normal kidney cells when looked at under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Wilms Tumor and Other Childhood Kidney Tumors ? ### Response: Key Points - Wilms tumors are staged during surgery and with imaging tests. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - In addition to the stages, Wilms tumors are described by their histology. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wilms Tumor and Other Childhood Kidney Tumors ? ### Response: Key Points - There are different types of treatment for patients with Wilms tumor and other childhood kidney tumors. - Children with Wilms tumor or other childhood kidney tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Wilms Tumor and Other Childhood Kidney Tumors ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mycosis Fungoides and the Szary Syndrome ? ### Response: Key Points - Mycosis fungoides and the Szary syndrome are diseases in which lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. - Mycosis fungoides and the Szary syndrome are types of cutaneous T-cell lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mycosis Fungoides and the Szary Syndrome ? ### Response: A sign of mycosis fungoides is a red rash on the skin. Mycosis fungoides may go through the following phases: - Premycotic phase: A scaly, red rash in areas of the body that usually are not exposed to the sun. This rash does not cause symptoms and may last for months or years. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mycosis Fungoides and the Szary Syndrome ? ### Response: Tests that examine the skin and blood are used to detect (find) and diagnose mycosis fungoides and the Szary syndrome. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps, the number and type of skin lesions, or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Mycosis Fungoides and the Szary Syndrome ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of lesion (patches, plaques, or tumors). Mycosis fungoides and the Szary syndrome are hard to cure. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Mycosis Fungoides and the Szary Syndrome ? ### Response: Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Mycosis Fungoides and the Szary Syndrome ? ### Response: Key Points - After mycosis fungoides and the Szary syndrome have been diagnosed, tests are done to find out if cancer cells have spread from the skin to other parts of the body. - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mycosis Fungoides and the Szary Syndrome ? ### Response: Key Points - There are different types of treatment for patients with mycosis fungoides and the Szary syndrome cancer. - Six types of standard treatment are used: - Photodynamic therapy - Radiation therapy - Chemotherapy - Other drug therapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Key Points - Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. - Different factors increase or decrease the risk of getting colorectal cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Colorectal Cancer? ? ### Response: Different factors increase or decrease the risk of getting colorectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for colorectal cancer, see the PDQ summary on Colorectal Cancer Prevention. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile Myelomonocytic Leukemia ? ### Response: Key Points - Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile Myelomonocytic Leukemia ? ### Response: Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by JMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Juvenile Myelomonocytic Leukemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for JMML depend on the following: - The age of the child at diagnosis. - The number of platelets in the blood. - The amount of a certain type of hemoglobin in red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile Myelomonocytic Leukemia ? ### Response: Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy. - Stem cell transplant. - 13-cis-retinoic acid therapy. - A clinical trial of a new treatment, such as targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary CNS Lymphoma ? ### Response: Key Points - Primary central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord. - Having a weakened immune system may increase the risk of developing primary CNS lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Primary CNS Lymphoma? ? ### Response: Having a weakened immune system may increase the risk of developing primary CNS lymphoma. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary CNS Lymphoma ? ### Response: Tests that examine the eyes, brain, and spinal cord are used to detect (find) and diagnose primary CNS lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Primary CNS Lymphoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The patient's age and general health. - The level of certain substances in the blood and cerebrospinal fluid (CSF). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Primary CNS Lymphoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary CNS Lymphoma ? ### Response: Key Points - There are different types of treatment for patients with primary CNS lymphoma. - Three standard treatments are used: - Radiation therapy - Chemotherapy - Steroid therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian Germ Cell Tumors ? ### Response: Key Points - Ovarian germ cell tumor is a disease in which malignant (cancer) cells form in the germ (egg) cells of the ovary. - Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. - Tests that examine the ovaries, pelvic area, blood, and ovarian tissue are used to detect (find) and diagnose ovarian germ cell tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ovarian Germ Cell Tumors ? ### Response: Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. Ovarian germ cell tumors can be hard to diagnose (find) early. Often there are no symptoms in the early stages, but tumors may be found during regular gynecologic exams (checkups). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ovarian Germ Cell Tumors ? ### Response: Tests that examine the ovaries, pelvic area, blood, and ovarian tissue are used to detect (find) and diagnose ovarian germ cell tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Ovarian Germ Cell Tumors ? ### Response: Certain factors affect prognosis (chance of recovery and treatment options). The prognosis (chance of recovery) and treatment options depend on the following: - The type of cancer. - The size of the tumor. - The stage of cancer (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Ovarian Germ Cell Tumors ? ### Response: Key Points - After ovarian germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread within the ovary or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ovarian Germ Cell Tumors ? ### Response: Key Points - There are different types of treatment for patients with ovarian germ cell tumors. - Four types of standard treatment are used: - Surgery - Observation - Chemotherapy - Radiation therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ovarian Germ Cell Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Acute Lymphoblastic Leukemia ? ### Response: Key Points - Adult acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Acute Lymphoblastic Leukemia ? ### Response: Signs and symptoms of adult ALL include fever, feeling tired, and easy bruising or bleeding. The early signs and symptoms of ALL may be like the flu or other common diseases. Check with your doctor if you have any of the following: - Weakness or feeling tired. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Acute Lymphoblastic Leukemia ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult ALL. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as infection or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Acute Lymphoblastic Leukemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The age of the patient. - Whether the cancer has spread to the brain or spinal cord. - Whether there are certain changes in the genes, including the Philadelphia chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Acute Lymphoblastic Leukemia? ? ### Response: Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Acute Lymphoblastic Leukemia ? ### Response: Key Points - Once adult ALL has been diagnosed, tests are done to find out if the cancer has spread to the central nervous system (brain and spinal cord) or to other parts of the body. - There is no standard staging system for adult ALL. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult Acute Lymphoblastic Leukemia ? ### Response: Key Points - There are different types of treatment for patients with adult ALL. - The treatment of adult ALL usually has two phases. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - Chemotherapy with stem cell transplant - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oral Cavity and Oropharyngeal Cancer ? ### Response: Key Points - Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat. - The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Oral Cavity and Oropharyngeal Cancer? ? ### Response: The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Oral Cavity and Oropharyngeal Cancer? ? ### Response: Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Myelogenous Leukemia ? ### Response: Key Points - Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells. - Leukemia may affect red blood cells, white blood cells, and platelets. - Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic Myelogenous Leukemia ? ### Response: Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. These and other signs and symptoms may be caused by CML or by other conditions. Check with your doctor if you have any of the following: - Feeling very tired. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Chronic Myelogenous Leukemia ? ### Response: Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Every cell in the body contains DNA (genetic material) that determines how the cell looks and acts. DNA is contained inside chromosomes. In CML, part of the DNA from one chromosome moves to another chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic Myelogenous Leukemia ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myelogenous leukemia.. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease such as an enlarged spleen. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chronic Myelogenous Leukemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patients age. - The phase of CML. - The amount of blasts in the blood or bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Chronic Myelogenous Leukemia ? ### Response: Key Points - After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. - Chronic myelogenous leukemia has 3 phases. - Chronic phase - Accelerated phase - Blastic phase " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Chronic Myelogenous Leukemia ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Myelogenous Leukemia ? ### Response: Key Points - There are different types of treatment for patients with chronic myelogenous leukemia. - Six types of standard treatment are used: - Targeted therapy - Chemotherapy - Biologic therapy - High-dose chemotherapy with stem cell transplant - Donor lymphocyte infusion (DLI) - Surgery - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Myelofibrosis ? ### Response: Key Points - Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. - Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary Myelofibrosis ? ### Response: Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. Primary myelofibrosis often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by primary myelofibrosis or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Primary Myelofibrosis ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Prognosis (chance of recovery) depends on the following: - The age of the patient. - The number of abnormal red blood cells and white blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Myelofibrosis ? ### Response: Treatment of primary myelofibrosis in patients without signs or symptoms is usually watchful waiting. Patients with primary myelofibrosis may have signs or symptoms of anemia. Anemia is usually treated with transfusion of red blood cells to relieve symptoms and improve quality of life. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Plasma Cell Neoplasms (Including Multiple Myeloma)? ? ### Response: Age can affect the risk of plasma cell neoplasms. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Plasma Cell Neoplasms (Including Multiple Myeloma) ? ### Response: Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Plasma Cell Neoplasms (Including Multiple Myeloma) ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The type of plasma cell neoplasm. - The stage of the disease. - Whether a certain immunoglobulin (antibody) is present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Plasma Cell Neoplasms (Including Multiple Myeloma) ? ### Response: Key Points - There are no standard staging systems for monoclonal gammopathy of undetermined significance (MGUS), macroglobulinemia, and plasmacytoma. - After multiple myeloma has been diagnosed, tests are done to find out the amount of cancer in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Plasma Cell Neoplasms (Including Multiple Myeloma) ? ### Response: Key Points - There are different types of treatment for patients with plasma cell neoplasms. - Eight types of treatment are used: - Chemotherapy - Other drug therapy - Targeted therapy - High-dose chemotherapy with stem cell transplant - Biologic therapy - Radiation therapy - Surgery - Watchful waiting - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Plasma Cell Neoplasms (Including Multiple Myeloma) ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pituitary Tumors ? ### Response: Key Points - A pituitary tumor is a growth of abnormal cells in the tissues of the pituitary gland. - The pituitary gland hormones control many other glands in the body. - Having certain genetic conditions increases the risk of developing a pituitary tumor. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pituitary Tumors? ? ### Response: Having certain genetic conditions increases the risk of developing a pituitary tumor.Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pituitary Tumors ? ### Response: Signs of a pituitary tumor include problems with vision and certain physical changes. Signs and symptoms can be caused by the growth of the tumor and/or by hormones the tumor makes or by other conditions. Some tumors may not cause signs or symptoms. Check with your doctor if you have any of these problems. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pituitary Tumors ? ### Response: Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose a pituitary tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pituitary Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the type of tumor and whether the tumor has spread into other areas of the central nervous system (brain and spinal cord) or outside of the central nervous system to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Pituitary Tumors ? ### Response: Key Points - Once a pituitary tumor has been diagnosed, tests are done to find out if it has spread within the central nervous system (brain and spinal cord) or to other parts of the body. - Pituitary tumors are described in several ways. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pituitary Tumors ? ### Response: Key Points - There are different types of treatment for patients with pituitary tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Drug therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pituitary Tumors ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Lymphocytic Leukemia ? ### Response: Key Points - Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Older age can affect the risk of developing chronic lymphocytic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Chronic Lymphocytic Leukemia? ? ### Response: Older age can affect the risk of developing chronic lymphocytic leukemia. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic Lymphocytic Leukemia ? ### Response: Signs and symptoms of chronic lymphocytic leukemia include swollen lymph nodes and tiredness. Usually CLL does not cause any signs or symptoms and is found during a routine blood test. Signs and symptoms may be caused by CLL or by other conditions. Check with your doctor if you have any of the following: - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic Lymphocytic Leukemia ? ### Response: Tests that examine the blood, bone marrow, and lymph nodes are used to detect (find) and diagnose chronic lymphocytic leukemia. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Chronic Lymphocytic Leukemia ? ### Response: Certain factors affect treatment options and prognosis (chance of recovery). Treatment options depend on: - The stage of the disease. - Red blood cell, white blood cell, and platelet blood counts. - Whether there are signs or symptoms, such as fever, chills, or weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Chronic Lymphocytic Leukemia ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic Lymphocytic Leukemia ? ### Response: Key Points - There are different types of treatment for patients with chronic lymphocytic leukemia. - Five types of standard treatment are used: - Watchful waiting - Radiation therapy - Chemotherapy - Surgery - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Myeloproliferative Neoplasms ? ### Response: Key Points - Myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. - There are 6 types of chronic myeloproliferative neoplasms. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myeloproliferative neoplasms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic Myeloproliferative Neoplasms ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myeloproliferative neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Chronic Myeloproliferative Neoplasms ? ### Response: Key Points - There is no standard staging system for chronic myeloproliferative neoplasms. There is no standard staging system for chronic myeloproliferative neoplasms. Staging is the process used to find out how far the cancer has spread. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Key Points - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - Nonmelanoma skin cancer is the most common cancer in the United States. - Being exposed to ultraviolet radiation may increase the risk of skin cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Skin Cancer? ? ### Response: Being exposed to ultraviolet radiation may increase the risk of skin cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? ### Response: Key Points - Myelodysplastic/myeloproliferative neoplasm, unclassifiable, is a disease that has features of both myelodysplastic and myeloproliferative diseases but is not chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, or atypical chronic myelogenous leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? ### Response: Signs and symptoms of myelodysplastic/myeloproliferative neoplasm, unclassifiable, include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by MDS/MPN-UC or by other conditions. Check with your doctor if you have any of the following: - Fever or frequent infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? ### Response: Because myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC) is a rare disease, little is known about its treatment. Treatment may include the following: - Supportive care treatments to manage problems caused by the disease such as infection, bleeding, and anemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Penile Cancer ? ### Response: Key Points - Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. - Human papillomavirus infection may increase the risk of developing penile cancer. - Signs of penile cancer include sores, discharge, and bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Penile Cancer? ? ### Response: Human papillomavirus infection may increase the risk of developing penile cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Penile Cancer ? ### Response: Signs of penile cancer include sores, discharge, and bleeding. These and other signs may be caused by penile cancer or by other conditions. Check with your doctor if you have any of the following: - Redness, irritation, or a sore on the penis. - A lump on the penis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Penile Cancer ? ### Response: Tests that examine the penis are used to detect (find) and diagnose penile cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking the penis for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Penile Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The location and size of the tumor. - Whether the cancer has just been diagnosed or has recurred (come back). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Penile Cancer ? ### Response: Key Points - After penile cancer has been diagnosed, tests are done to find out if cancer cells have spread within the penis or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Penile Cancer ? ### Response: Key Points - There are different types of treatment for patients with penile cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Penile Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thymoma and Thymic Carcinoma ? ### Response: Key Points - Thymoma and thymic carcinoma are diseases in which malignant (cancer) cells form on the outside surface of the thymus. - Thymoma is linked with myasthenia gravis and other autoimmune diseases. - Signs and symptoms of thymoma and thymic carcinoma include a cough and chest pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thymoma and Thymic Carcinoma ? ### Response: Signs and symptoms of thymoma and thymic carcinoma include a cough and chest pain. Thymoma and thymic carcinoma may not cause early signs or symptoms. The cancer may be found during a routine chest x-ray. Signs and symptoms may be caused by thymoma, thymic carcinoma, or other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thymoma and Thymic Carcinoma ? ### Response: Tests that examine the thymus are used to detect (find) thymoma or thymic carcinoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Thymoma and Thymic Carcinoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of cancer cell. - Whether the tumor can be removed completely by surgery. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Thymoma and Thymic Carcinoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thymoma and Thymic Carcinoma ? ### Response: Key Points - There are different types of treatment for patients with thymoma and thymic carcinoma. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Small Intestine Cancer ? ### Response: Key Points - Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine. - There are five types of small intestine cancer. - Diet and health history can affect the risk of developing small intestine cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Small Intestine Cancer? ? ### Response: Diet and health history can affect the risk of developing small intestine cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Small Intestine Cancer ? ### Response: Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain. These and other signs and symptoms may be caused by small intestine cancer or by other conditions. Check with your doctor if you have any of the following: - Pain or cramps in the middle of the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Small Intestine Cancer ? ### Response: Tests that examine the small intestine are used to detect (find), diagnose, and stage small intestine cancer.Procedures that make pictures of the small intestine and the area around it help diagnose small intestine cancer and show how far the cancer has spread. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Small Intestine Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The type of small intestine cancer. - Whether the cancer is in the inner lining of the small intestine only or has spread into or beyond the wall of the small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Small Intestine Cancer ? ### Response: Key Points - Tests and procedures to stage small intestine cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Small Intestine Cancer ? ### Response: Key Points - There are different types of treatment for patients with small intestine cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Testicular Cancer ? ### Response: Key Points - Testicular cancer is a disease in which malignant (cancer) cells form in the tissues of one or both testicles. - Testicular cancer is the most common cancer in men aged 15 to 34 years. - Testicular cancer can usually be cured. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Testicular Cancer? ? ### Response: Testicular cancer is the most common cancer in men aged 15 to 34 years. Testicular cancer is very rare, but it is the most common cancer found in men between the ages of 15 and 34. White men are four times more likely than black men to have testicular cance " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Testicular Cancer ? ### Response: Testicular cancer can usually be cured. Although the number of new cases of testicular cancer has doubled in the last 40 years, the number of deaths caused by testicular cancer has decreased greatly because of better treatments. Testicular cancer can usually be cured, even in late stages of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Testicular Cancer? ? ### Response: A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Testicular Cancer? ? ### Response: Health history can affect the risk of testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Testicular Cancer ? ### Response: Key Points - After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Testicular Cancer ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hairy Cell Leukemia ? ### Response: Key Points - Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Gender and age may affect the risk of hairy cell leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hairy Cell Leukemia? ? ### Response: Gender and age may affect the risk of hairy cell leukemia. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hairy Cell Leukemia ? ### Response: Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. These and other signs and symptoms may be caused by hairy cell leukemia or by other conditions. Check with your doctor if you have any of the following: - Weakness or feeling tired. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hairy Cell Leukemia ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as a swollen spleen, lumps, or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Hairy Cell Leukemia ? ### Response: Certain factors affect treatment options and prognosis (chance of recovery). The treatment options may depend on the following: - The number of hairy (leukemia) cells and healthy blood cells in the blood and bone marrow. - Whether the spleen is swollen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Hairy Cell Leukemia ? ### Response: Key Points - There is no standard staging system for hairy cell leukemia. There is no standard staging system for hairy cell leukemia. Staging is the process used to find out how far the cancer has spread. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Hairy Cell Leukemia ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hairy Cell Leukemia ? ### Response: Key Points - There are different types of treatment for patients with hairy cell leukemia. - Five types of standard treatment are used: - Watchful waiting - Chemotherapy - Biologic therapy - Surgery - Targeted therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Central Nervous System Tumors ? ### Response: Key Points - An adult central nervous system tumor is a disease in which abnormal cells form in the tissues of the brain and/or spinal cord. - A tumor that starts in another part of the body and spreads to the brain is called a metastatic brain tumor. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Central Nervous System Tumors? ? ### Response: Having certain genetic syndromes may increase the risk of a central nervous system tumor. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Central Nervous System Tumors? ? ### Response: Having certain genetic syndromes may increase the risk of a central nervous system tumor. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Central Nervous System Tumors ? ### Response: The signs and symptoms of adult brain and spinal cord tumors are not the same in every person. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - What the affected part of the brain controls. - The size of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Central Nervous System Tumors ? ### Response: Tests that examine the brain and spinal cord are used to diagnose adult brain and spinal cord tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Central Nervous System Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for primary brain and spinal cord tumors depend on the following: - The type and grade of the tumor. - Where the tumor is in the brain or spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Central Nervous System Tumors ? ### Response: Key Points - There is no standard staging system for adult brain and spinal cord tumors. - Imaging tests may be repeated after surgery to help plan more treatment. There is no standard staging system for adult brain and spinal cord tumors. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adult Central Nervous System Tumors ? ### Response: New types of treatment are being tested in clinical trials. This summary section refers to new treatments being studied in clinical trials, but it may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult Central Nervous System Tumors ? ### Response: Key Points - There are different types of treatment for patients with adult brain and spinal cord tumors. - Five types of standard treatment are used: - Active surveillance - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - Supportive care is given to lessen the problems caused by the disease or its treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pancreatic Cancer ? ### Response: Key Points - Pancreatic cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas. - Smoking and health history can affect the risk of pancreatic cancer. - Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pancreatic Cancer? ? ### Response: Smoking and health history can affect the risk of pancreatic cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pancreatic Cancer ? ### Response: Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss. Pancreatic cancer may not cause early signs or symptoms. Signs and symptoms may be caused by pancreatic cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin and whites of the eyes). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pancreatic Cancer ? ### Response: Tests that examine the pancreas are used to detect (find), diagnose, and stage pancreatic cancer. Pancreatic cancer is usually diagnosed with tests and procedures that make pictures of the pancreas and the area around it. The process used to find out if cancer cells have spread within and around the pancreas is called staging. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Pancreatic Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether or not the tumor can be removed by surgery. - The stage of the cancer (the size of the tumor and whether the cancer has spread outside the pancreas to nearby tissues or lymph nodes or to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Pancreatic Cancer ? ### Response: Key Points - Tests and procedures to stage pancreatic cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pancreatic Cancer ? ### Response: Key Points - There are different types of treatment for patients with pancreatic cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Chemoradiation therapy - Targeted therapy - There are treatments for pain caused by pancreatic cancer. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Pancreatic Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Hodgkin Lymphoma ? ### Response: Key Points - Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. - Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Hodgkin Lymphoma? ? ### Response: Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Hodgkin Lymphoma ? ### Response: Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by adult Hodgkin lymphoma or by other conditions. Check with your doctor if any of the following do not go away: - Painless, swollen lymph nodes in the neck, underarm, or groin. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Hodgkin Lymphoma ? ### Response: Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Hodgkin Lymphoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's signs and symptoms. - The stage of the cancer. - The type of Hodgkin lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adult Hodgkin Lymphoma ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Hodgkin Lymphoma ? ### Response: Key Points - After adult Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of adult Hodgkin lymphoma may include A, B, E, and S. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult Hodgkin Lymphoma ? ### Response: Key Points - There are different types of treatment for patients with adult Hodgkin lymphoma. - Patients with Hodgkin lymphoma should have their treatment planned by a team of health care providers with expertise in treating lymphomas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: Key Points - Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts. - Having colitis or certain liver diseases can increase the risk of bile duct cancer. - Signs of bile duct cancer include jaundice and pain in the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Bile Duct Cancer (Cholangiocarcinoma)? ? ### Response: Having colitis or certain liver diseases can increase the risk of bile duct cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: Signs of bile duct cancer include jaundice and pain in the abdomen. These and other signs and symptoms may be caused by bile duct cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin or whites of the eyes). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. Procedures that make pictures of the bile ducts and the nearby area help diagnose bile duct cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bile ducts or to distant parts of the body is called staging. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the cancer is in the upper or lower part of the bile duct system. - The stage of the cancer (whether it affects only the bile ducts or has spread to the liver, lymph nodes, or other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: Key Points - The results of diagnostic and staging tests are used to find out if cancer cells have spread. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Stages are used to describe the different types of bile duct cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bile Duct Cancer (Cholangiocarcinoma) ? ### Response: Key Points - There are different types of treatment for patients with bile duct cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intraocular (Uveal) Melanoma ? ### Response: Key Points - Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye. - Being older and having fair skin may increase the risk of intraocular melanoma. - Signs of intraocular melanoma include blurred vision or a dark spot on the iris. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Intraocular (Uveal) Melanoma? ? ### Response: Being older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intraocular (Uveal) Melanoma ? ### Response: Signs of intraocular melanoma include blurred vision or a dark spot on the iris. Intraocular melanoma may not cause early signs or symptoms. It is sometimes found during a regular eye exam when the doctor dilates the pupil and looks into the eye. Signs and symptoms may be caused by intraocular melanoma or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Intraocular (Uveal) Melanoma ? ### Response: Tests that examine the eye are used to help detect (find) and diagnose intraocular melanoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Intraocular (Uveal) Melanoma ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - How the melanoma cells look under a microscope. - The size and thickness of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Intraocular (Uveal) Melanoma ? ### Response: Key Points - After intraocular melanoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - The following sizes are used to describe intraocular melanoma: - Small - Medium - Large - There are three ways that cancer spreads in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intraocular (Uveal) Melanoma ? ### Response: Key Points - There are different types of treatments for patients with intraocular melanoma. - Five types of standard treatment are used: - Surgery - Watchful Waiting - Radiation therapy - Photocoagulation - Thermotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Intraocular (Uveal) Melanoma ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Non-Small Cell Lung Cancer ? ### Response: Key Points - Non-small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are several types of non-small cell lung cancer. - Smoking is the major risk factor for non-small cell lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Non-Small Cell Lung Cancer? ? ### Response: Smoking is the major risk factor for non-small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Non-Small Cell Lung Cancer ? ### Response: Signs of non-small cell lung cancer include a cough that doesn't go away and shortness of breath. Sometimes lung cancer does not cause any signs or symptoms. It may be found during a chest x-ray done for another condition. Signs and symptoms may be caused by lung cancer or by other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Non-Small Cell Lung Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the lung only or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Non-Small Cell Lung Cancer ? ### Response: Key Points - After lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lungs or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Non-Small Cell Lung Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian Low Malignant Potential Tumors ? ### Response: Key Points - Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. - Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen. - Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ovarian Low Malignant Potential Tumors ? ### Response: Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen.Ovarian low malignant potential tumor may not cause early signs or symptoms. If you do have signs or symptoms, they may include the following: - Pain or swelling in the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ovarian Low Malignant Potential Tumors ? ### Response: Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Ovarian Low Malignant Potential Tumors ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the disease (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Ovarian Low Malignant Potential Tumors ? ### Response: Key Points - After ovarian low malignant potential tumor has been diagnosed, tests are done to find out if abnormal cells have spread within the ovary or to other parts of the body. - The following stages are used for ovarian low malignant potential tumor: - Stage I - Stage II - Stage III - Stage IV " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ovarian Low Malignant Potential Tumors ? ### Response: Key Points - There are different types of treatment for patients with ovarian low malignant potential tumor. - Two types of standard treatment are used: - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Ovarian Low Malignant Potential Tumors ? ### Response: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI Web site. Patients may want to think about taking part in a clinical trial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: Key Points - Osteosarcoma and malignant fibrous histiocytoma (MFH) of the bone are diseases in which malignant (cancer) cells form in bone. - Having past treatment with radiation can increase the risk of osteosarcoma. - Signs and symptoms of osteosarcoma and MFH include swelling over a bone or a bony part of the body and joint pain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone? ? ### Response: Having past treatment with radiation can increase the risk of osteosarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: Signs and symptoms of osteosarcoma and MFH include swelling over a bone or a bony part of the body and joint pain. These and other signs and symptoms may be caused by osteosarcoma or MFH or by other conditions. Check with a doctor if your child has any of the following: - Swelling over a bone or bony part of the body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: Imaging tests are used to detect (find) osteosarcoma and MFH. Imaging tests are done before the biopsy. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) is affected by certain factors before and after treatment. The prognosis of untreated osteosarcoma and MFH depends on the following: - Where the tumor is in the body and whether tumors formed in more than one bone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: Key Points - After osteosarcoma or malignant fibrous histiocytoma (MFH) has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: Key Points - There are different types of treatment for patients with osteosarcoma or malignant fibrous histiocytoma (MFH) of bone. - Children with osteosarcoma or MFH should have their treatment planned by a team of health care providers who are experts in treating cancer in children. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about ongoing clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult Acute Myeloid Leukemia ? ### Response: Key Points - Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. - Leukemia may affect red blood cells, white blood cells, and platelets. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Adult Acute Myeloid Leukemia? ? ### Response: Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult Acute Myeloid Leukemia ? ### Response: Signs and symptoms of adult AML include fever, feeling tired, and easy bruising or bleeding. The early signs and symptoms of AML may be like those caused by the flu or other common diseases. Check with your doctor if you have any of the following: - Fever. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adult Acute Myeloid Leukemia ? ### Response: Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult AML. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Adult Acute Myeloid Leukemia ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Adult Acute Myeloid Leukemia ? ### Response: Key Points - Once adult acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. - There is no standard staging system for adult AML. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult Acute Myeloid Leukemia ? ### Response: Key Points - There are different types of treatment for patients with adult acute myeloid leukemia. - The treatment of adult AML usually has 2 phases. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - Stem cell transplant - Other drug therapy - New types of treatment are being tested in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Adult Acute Myeloid Leukemia ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ? ### Response: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Astrocytomas ? ### Response: Key Points - Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. - Astrocytomas may be benign (not cancer) or malignant (cancer). - The central nervous system controls many important body functions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Astrocytomas ? ### Response: Key Points - Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. - Astrocytomas may be benign (not cancer) or malignant (cancer). - The central nervous system controls many important body functions. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Astrocytomas? ? ### Response: Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Astrocytomas ? ### Response: The signs and symptoms of astrocytomas are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - The size of the tumor. - How fast the tumor grows. - The child's age and development. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Astrocytomas ? ### Response: Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Childhood Astrocytomas ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is a low-grade or high-grade astrocytoma. - Where the tumor has formed in the CNS and if it has spread to nearby tissue or to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Childhood Astrocytomas ? ### Response: Key Points - The grade of the tumor is used to plan cancer treatment. - Low-grade astrocytomas - High-grade astrocytomas - An MRI is done after surgery. The grade of the tumor is used to plan cancer treatment. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Childhood Astrocytomas ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Astrocytomas ? ### Response: Key Points - There are different types of treatment for patients with childhood astrocytoma. - Children with astrocytomas should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Signs of prostate cancer include a weak flow of urine or frequent urination. - Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prostate Cancer ? ### Response: Signs of prostate cancer include a weak flow of urine or frequent urination. These and other signs and symptoms may be caused by prostate cancer or by other conditions. Check with your doctor if you have any of the following: - Weak or interrupted (""stop-and-go"") flow of urine. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prostate Cancer ? ### Response: Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Prostate Cancer ? ### Response: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (level of PSA, Gleason score, grade of the tumor, how much of the prostate is affected by the cancer, and whether the cancer has spread to other places in the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the stages of Prostate Cancer ? ### Response: Key Points - After prostate cancer has been diagnosed, tests are done to find out if cancer cells have spread within the prostate or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Key Points - There are different types of treatment for patients with prostate cancer. - Seven types of standard treatment are used: - Watchful waiting or active surveillance - Surgery - Radiation therapy and radiopharmaceutical therapy - Hormone therapy - Chemotherapy - Biologic therapy - Bisphosphonate therapy - There are treatments for bone pain caused by bone metastases or hormone therapy. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Prostate Cancer ? ### Response: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knee Replacement ? ### Response: There are many different types and designs of artificial knees. Most consist of three components: - the femoral component, which is the part that attaches to the thigh bone - the tibial component, the part that attaches to the shin bone - the patellar component, the knee cap. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Knee Replacement ? ### Response: While new technology and advances in surgical techniques have greatly reduced the risks involved with knee replacements, there are still some risks you should be aware of. Two of the most common possible problems are blood clots and infection. Preventing Blood Clots Blood clots can occur in the veins of your legs after knee replacement surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Knee Replacement ? ### Response: Recovery from knee replacement extends long after you leave the hospital. Preparing for recovery requires learning what to expect in the days and weeks following surgery. It requires understanding what you will and wont be able to do and when. It also means arranging for social support and arranging your house to make everyday tasks easier and to help speed your recovery. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Knee Replacement ? ### Response: Recovery from knee replacement extends long after you leave the hospital. Preparing for recovery requires learning what to expect in the days and weeks following surgery. It requires understanding what you will and wont be able to do and when. It also means arranging for social support and arranging your house to make everyday tasks easier and to help speed your recovery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Knee Replacement ? ### Response: Treatments your doctor will likely recommend before knee replacement include - exercises to strengthen the muscles around the knee and improve flexibility - weight loss, if needed, to reduce the load the knee must bear - walking aids such as canes to reduce stress on the joint - shoe inserts to improve the knees alignment - medicines to relieve pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knee Replacement ? ### Response: Knee replacement may be either total or partial/unicompartmental. In total knee replacement, as the name suggests, the entire knee joint is replaced. You will likely need a total knee replacement if you have damage to several parts of your knee. In partial/unicompartmental knee replacement, the surgeon replaces just the damaged part of the knee. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knee Replacement ? ### Response: A physical therapist will teach you exercises to help your recovery. You can expect some pain, discomfort, and stiffness as you begin therapy, but to get the best results from your new knee, it is important to do all of the exercises your physical therapist recommends. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Knee Replacement ? ### Response: Two of the most common possible problems are blood clots and infection. Other complications, such as new or ongoing pain, stiffness, fracture, bleeding, or injury to the blood vessels can occur. Serious medical complications, such as heart attack or stroke, are very rare. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Knee Replacement ? ### Response: To reduce the risk of clots, your doctor may have you elevate your leg periodically and prescribe special exercises, support hose, or blood thinners. To reduce the risk of infection, your doctor may prescribe antibiotics for you to take prior to your surgery and for a short time afterward. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Knee Replacement? ? ### Response: Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. A raised toilet seat can make it easier to get up and down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Low Vision ? ### Response: Everyday Tasks Are Challenging Low vision means that even with regular glasses, contact lenses, medicine, or surgery, people find everyday tasks difficult to do. Reading the mail, shopping, cooking, seeing the TV, and writing can seem challenging. Millions of Americans lose some of their vision every year. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Low Vision ? ### Response: Eye Diseases and Health Conditions Most people develop low vision because of eye diseases and health conditions like macular degeneration, cataracts, glaucoma, and diabetes. Your eye care professional can tell the difference between normal changes in the aging eye and those caused by eye diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Low Vision ? ### Response: Low vision is a visual impairment, not correctable by standard glasses, contact lenses, medicine, or surgery, that interferes with a person's ability to perform everyday activities. (Watch the video to learn more about low vision. To enlarge the video, click the brackets in the lower right-hand corner. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Low Vision ? ### Response: Low vision can result from a variety of diseases, disorders, and injuries that affect the eye. Many people with low vision have age-related macular degeneration, cataracts, glaucoma, or diabetic retinopathy. Age-related macular degeneration accounts for almost 45 percent of all cases of low vision. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Low Vision? ? ### Response: People age 60 and older, as well as African Americans and Hispanics over age 45, are at higher risk. African Americans and Hispanics are at higher risk for low vision because they are at higher risk for developing diabetes and diabetic retinopathy, and African Americans are at a higher risk for developing glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Low Vision ? ### Response: Many agencies and organizations in the community provide assistance and information to people who have low vision and to their families and caregivers. State agencies for the blind and visually impaired can make referrals to a variety of organizations that provide assistance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gout ? ### Response: Sudden, Intense Joint Pain Gout is a form of arthritis that causes the sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gout ? ### Response: A Buildup of Uric Acid Most people with gout have too much uric acid in their blood, a condition called hyperuricemia. Uric acid is a substance that results from the breakdown of purines which are a part of all human tissue and found in many foods. Needle-like crystals of uric acid can build up in the connective tissue, in the joint space between two bones, or both. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gout ? ### Response: Attacks Usually Start at Night Gout is a form of arthritis that causes sudden onset of intense pain and swelling in the joints, which also may be warm and red. Gout typically attacks one joint at a time, and the attacks usually begin at night. Where Gout Usually Occurs Gout normally attacks joints in the lower part of the body, such as the knee, ankle or big toe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gout ? ### Response: Symptoms Can Be Controlled With proper treatment, most people with gout are able to control their symptoms and live productive lives. The goals for treatment are to ease the pain that comes from sudden attacks, prevent future attacks, stop uric acid buildup in the tissues and joint space between two bones, and prevent kidney stones from forming. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Gout ? ### Response: Because uric acids role in gout is well understood and medications to ease attacks and reduce the risk or severity of future attacks are widely available, gout is one of the mostif not the mostcontrollable forms of arthritis. But researchers continue to make advances that help people live with gout. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gout ? ### Response: Gout is a form of arthritis that causes sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gout ? ### Response: Most people with gout have too much uric acid in their blood, a condition called hyperuricemia. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods, especially those high in protein. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gout? ? ### Response: These risk factors are associated with gout. - Genetics. Many people with gout have a family history of the disease. - Gender and age. Gout is more common in men than in women and more common in adults than in children. - Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gout? ? ### Response: Yes. A number of medications may put people at risk for developing hyperuricemia and gout. They include - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gout ? ### Response: Gout is a form of arthritis that frequently affects joints in the lower part of the body such as the knees, ankles, or toes. The affected joint may become swollen, red, or warm. Attacks usually occur at night. Sometime during the course of the disease, many patients will develop gout in the big toe. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gout ? ### Response: To confirm a diagnosis of gout, the doctor inserts a needle into the inflamed joint and draws a sample of synovial fluid, the substance that lubricates a joint. A laboratory technician places some of the fluid on a slide and looks for uric acid crystals under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gout ? ### Response: Physicians often prescribe high doses of non-steroidal anti-inflammatory drugs (NSAIDs) or steroids for a sudden attack of gout. NSAIDs are taken by mouth and corticosteroids are either taken by mouth or injected into the affected joint. Patients often begin to improve within a few hours of treatment, and the attack usually goes away completely within a week or so. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gout ? ### Response: Physicians often prescribe high doses of non-steroidal anti-inflammatory drugs (NSAIDs) or steroids for a sudden attack of gout. NSAIDs are taken by mouth and corticosteroids are either taken by mouth or injected into the affected joint. Patients often begin to improve within a few hours of treatment, and the attack usually goes away completely within a week or so. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Quitting Smoking for Older Adults ? ### Response: Many former smokers who are 50 and older say that their main reason for quitting was for their health or due to their doctors advice. Another common reason smokers quit is to be in control of their lives and to be free from cigarettes. A lot of former smokers also said that pleasing or helping a loved one was a big part of their decision to quit. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Quitting Smoking for Older Adults ? ### Response: One of the keys to successfully quitting is preparation. A great way to prepare to quit smoking is to create a quit plan. Quit plans - keep you focused on quit smoking strategies that can help you be confident and motivated to quit - help you identify challenges you will face as you quit and ways to overcome them - can improve your chances of quitting smoking for good. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Quitting Smoking for Older Adults ? ### Response: Quitlines are free, anonymous telephone counseling services. These programs have helped more than 3 million smokers. When you call a quitline, you talk to a trained counselor who can help you develop a strategy for quitting or help you stay on track. The counselor can provide material that could improve your chances of quitting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Quitting Smoking for Older Adults ? ### Response: These quit smoking websites offer you free, accurate information and professional assistance to help support the immediate and long-term needs of people trying to quit smoking. The National Cancer Institute sponsors - Smokefree 60+.gov, a quit-smoking website for older adults - Smokefree. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alcohol Use and Older Adults ? ### Response: Alcohol, also known as ethanol, is a chemical found in beverages like beer, wine, and distilled spirits such as whiskey, vodka, and rum. Through a process called fermentation, yeast converts the sugars naturally found in grains and grapes into the alcohol that is in beer and wine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alcohol Use and Older Adults ? ### Response: Blood alcohol concentration (BAC) measures the percentage of ethanolthe chemical name for alcohol in alcoholic beveragesin a persons blood. As you drink, you increase your blood alcohol concentration (BAC) level. The higher the BAC, the more impaired a person is. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alcohol Use and Older Adults ? ### Response: If a person drinks too much or too often he or she may develop an alcohol use disorder (AUD). An AUD can range in severity from mild to severe. On one end of this spectrum, drinking might cause sickness, depression, or sleeping problems. More severe symptoms include drinking more than intended or craving alcohol once youve stopped drinking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alcohol Use and Older Adults ? ### Response: There is not one right treatment for everyone with alcohol problems. In general, many people need more than one kind of treatment. Medicines can help people with alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alcohol Use and Older Adults ? ### Response: Prescription medicines can help people with alcohol use disorder reduce their drinking, avoid going back to heavy drinking, and get sober. None of them works in every person. There are three medications approved by the U.S. Food and Drug Administration for the treatment of alcohol use disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alcohol Use and Older Adults ? ### Response: Talking about alcohol use with a professional is beneficial to many people. Counseling either one-on-one or in groups can help develop skills to stop or reduce drinking, develop reachable goals, manage the triggers that lead to alcohol misuse and build a strong social support system that supports healthy habits. " "Below is an instruction from Human. Write a response. ### Instruction: Where to find support for people with Alcohol Use and Older Adults ? ### Response: Many people with alcohol problems find it helpful to talk with others who have faced similar problems. Mutual help groups, such as Alcoholics Anonymous (AA) 12-step programs, help people recover from alcohol use disorder. AA meetings are open to anyone who wants to stop drinking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alcohol Use and Older Adults ? ### Response: Some people with an alcohol use disorder are treated in a facility, such as a hospital, mental health center, or substance abuse clinic. Treatment may last as long as several weeks. This type of treatment typically involves detoxification (when a person is weaned from alcohol), medicine, and counseling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alcohol Use and Older Adults ? ### Response: Most people with alcohol problems can be treated successfully. People with an alcohol use disorder and those who misuse alcohol and cannot stay within healthy drinking limits should stop drinking altogether. Others can cut back until their drinking is under control. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alcohol Use and Older Adults ? ### Response: Older people with alcohol problems respond to treatment as well as younger people. Some studies suggest that older adults do better when they are treated with other people the same age instead of mixed in with younger adults. Some communities have treatment programs and support groups specifically for older adults. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cataract ? ### Response: A Clouding of the Lens in the Eye A cataract is a clouding of the lens in the eye that affects vision. The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cataract? ? ### Response: Age-related cataracts develop in two ways. - Clumps of protein reduce the sharpness of the image reaching the retina. - The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Clumps of protein reduce the sharpness of the image reaching the retina. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cataract? ? ### Response: There are several things you can do to lower your risk for cataract. They include - having regular eye exams - quitting smoking - wearing sunglasses - taking care of other health problems - maintaining a healthy weight - choosing a healthy diet. having regular eye exams quitting smoking wearing sunglasses taking care of other health problems maintaining a healthy weight choosing a healthy diet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract ? ### Response: Common Symptoms The most common symptoms of a cataract are - cloudy or blurry vision and poor night vision - glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact lenses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cataract ? ### Response: A cataract needs to be removed only when vision loss interferes with your everyday activities, such as driving, reading, or watching TV. You and your eye care professional can make this decision together. Is Surgery Right For You? Once you understand the benefits and risks of surgery, you can make an informed decision about whether cataract surgery is right for you. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cataract ? ### Response: A cataract is a clouding of the lens in the eye that affects vision. Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cataract ? ### Response: The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cataract? ? ### Response: The risk of cataract increases as you get older. Besides age, other risk factors for cataract include - certain diseases like diabetes - personal behavior like smoking or alcohol use - environmental factors such as prolonged exposure to ultraviolet sunlight. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract ? ### Response: The most common symptoms of a cataract are - cloudy or blurry vision - colors seem faded - glare -- headlights, lamps, or sunlight appearing too bright, or a halo may appear around lights - poor night vision - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact lenses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cataract ? ### Response: Yes. Although most cataracts are related to aging, there are other types of cataract. These include - secondary cataract - traumatic cataract - congenital cataract - radiation cataract. secondary cataract traumatic cataract congenital cataract radiation cataract. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cataract? ? ### Response: Here are several things you can do to lower your risk for cataract. Have regular eye exams. Eye exams can help detect cataracts and other age-related eye problems at their earliest stages. If you are age 60 or older, you should have a comprehensive dilated eye exam at least once a year. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cataract ? ### Response: The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cataract ? ### Response: Yes. There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cataract? ? ### Response: As with any surgery, cataract surgery poses risks such as infection and bleeding. Before cataract surgery, your doctor may ask you to temporarily stop taking certain medications that increase the risk of bleeding during surgery. After surgery, you must keep your eye clean, wash your hands before touching your eye, and use the prescribed medications to help minimize the risk of infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: What is Cholesterol? Cholesterol is a waxy, fat-like substance that your liver makes. It is also found in some foods that come from animals. Cholesterol is found in all parts of your body. It plays a vital role in your body. It makes hormones, helps you digest food, and supports the workings of all the cells in your body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes High Blood Cholesterol ? ### Response: Many things can affect the level of cholesterol in your blood. You can control some of these things but not others. What You Can Control You can control - what you eat - your weight - your activity level. what you eat your weight your activity level. Your Diet Certain foods have several types of fat that raise your cholesterol level. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High Blood Cholesterol ? ### Response: High blood cholesterol usually does not have any signs or symptoms. Many people don't know that their cholesterol levels are too high. Who Should Be Tested Everyone age 20 and older should have their cholesterol levels checked at least once every 5 years. If your cholesterol level is high, you will have to be tested more often. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High Blood Cholesterol ? ### Response: High blood cholesterol usually does not have any signs or symptoms. Many people don't know that their cholesterol levels are too high. Who Should Be Tested Everyone age 20 and older should have their cholesterol levels checked at least once every 5 years. If your cholesterol level is high, you will have to be tested more often. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: LDL stands for low-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries and make them narrower. This buildup of cholesterol is called plaque. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: HDL stands for high-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) HDL cholesterol is sometimes called good cholesterol because it helps remove cholesterol from your artery walls and carries it to your liver. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Too much cholesterol in your blood is called high blood cholesterol. It can be serious. People with high blood cholesterol have a greater chance of getting heart disease. High blood cholesterol does not cause symptoms, so you may not be aware that your cholesterol level is too high. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Too much cholesterol in your blood is called high blood cholesterol. It can be serious. People with high blood cholesterol have a greater chance of getting heart disease. High blood cholesterol does not cause symptoms, so you may not be aware that your cholesterol level is too high. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Cholesterol can build up in the walls of your arteries. This buildup of cholesterol is called plaque. Over time, the plaque can build up so much that the arteries become narrower. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Cholesterol can build up in the walls of your arteries. This buildup of cholesterol is called plaque. Over time, the plaque can build up so much that the arteries become narrower. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: You can control - what you eat. Foods containing saturated fats, trans fats, and cholesterol raise your cholesterol. what you eat. Foods containing saturated fats, trans fats, and cholesterol raise your cholesterol. - your weight. Being overweight tends to increase your LDL level, reduce your HDL level, and increase your total cholesterol level. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: You cannot control - heredity. High blood cholesterol can run in families. - age. As we get older, our cholesterol levels rise. - sex. Before menopause, women tend to have lower total cholesterol levels than men of the same age. After menopause, women's LDL (bad) cholesterol levels tend to increase. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Cholesterol ? ### Response: The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Cholesterol ? ### Response: The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Cholesterol ? ### Response: The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Cholesterol ? ### Response: The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Cholesterol ? ### Response: The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Your LDL goal is how low your LDL cholesterol level should be to reduce your risk of developing heart disease or having a heart attack. The higher your risk, the lower your goal LDL should be. Your doctor will set your LDL goal using your medical history and the number of risk factors that you have. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Your LDL cholesterol goal level depends on your risk for developing heart disease or having a heart attack at the time you start treatment. Major risk factors that affect your LDL goal include - cigarette smoking - high blood pressure (140/90 mmHg or higher), or being on blood pressure medicine - low HDL cholesterol (less than 40 mg/dL) - family history of early heart disease (heart disease in father or brother before age 55; heart disease in mother or sister before age 65) - age (men 45 years or older; women 55 years or older). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: Your LDL cholesterol goal level depends on your risk for developing heart disease or having a heart attack at the time you start treatment. Major risk factors that affect your LDL goal include - cigarette smoking - high blood pressure (140/90 mmHg or higher), or being on blood pressure medicine - low HDL cholesterol (less than 40 mg/dL) - family history of early heart disease (heart disease in father or brother before age 55; heart disease in mother or sister before age 65) - age (men 45 years or older; women 55 years or older). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: TLC stands for Therapeutic Lifestyle Changes. It is a set of lifestyle changes that can help you lower your LDL cholesterol. TLC has three main parts: a cholesterol-lowering diet, weight management, and physical activity. The TLC Diet recommends - reducing the amount of saturated fat, trans fat, and cholesterol you eat. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: If TLC (Therapeutic Lifestyle Changes) cannot lower your LDL cholesterol level enough by itself, your doctor may prescribe cholesterol-lowering medicines. The following medicines are used together with TLC to help lower your LDL (bad) cholesterol level. - statins - ezetimibe - bile acid sequestrants - nicotinic acid - fibrates. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong and cells become abnormal, forming more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lung Cancer ? ### Response: Tobacco Products and Cancer Using tobacco products has been shown to cause cancer. In fact, smoking tobacco, using smokeless tobacco, and being exposed regularly to secondhand tobacco smoke are responsible for a large number of cancer deaths in the U.S. each year. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: There are many treatment options for lung cancer, mainly based on the extent of the disease. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the lung, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: The choice of treatment depends on the type of lung cancer, whether it is non-small or small cell lung cancer, the size, location, the stage of the cancer, and the patient's general health. Doctors may suggest many different treatments or combinations of treatments to control the cancer and/or improve the patient's quality of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: There are two major types of lung cancer -- non-small cell lung cancer and small cell lung cancer. Each type of lung cancer grows and spreads in different ways, and each is treated differently. Non-small cell lung cancer is more common than small cell lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lung Cancer ? ### Response: Cigarette smoking is the number one cause of lung cancer. Scientists have reported widely on the link between cancer and smoking since the 1960s. Since then, study after study has provided more proof that cigarette smoking is the primary cause of lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lung Cancer? ? ### Response: Risk factors that increase your chance of getting lung cancer include - cigarette, cigar, and pipe smoking, which account for well over half of all cases of lung cancer - secondhand smoke - family history - HIV infection - environmental risk factors - beta carotene supplements in heavy smokers. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lung Cancer? ? ### Response: If you smoke cigarettes, you are at much higher risk for lung cancer than a person who has never smoked. The risk of dying from lung cancer is 23 times higher for men who smoke and 13 times higher for women who smoke than for people who have never smoked. Stopping smoking greatly reduces your risk for developing lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lung Cancer ? ### Response: Some studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lung Cancer? ? ### Response: Quitting smoking not only cuts the risk of lung cancer, it cuts the risks of many other cancers as well as heart disease, stroke, other lung diseases, and other respiratory illnesses. Each U.S. state and territory has a free quitline to provide you with information and resources to help you quit smoking. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Lung Cancer? ? ### Response: Another substance that can contribute to lung cancer is asbestos. Asbestos is used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, but many products that contain asbestos have been phased out over the past several decades. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lung Cancer ? ### Response: The possible signs of lung cancer are: - a cough that doesn't go away and gets worse over time - constant chest pain - coughing up blood - shortness of breath, wheezing, or hoarseness - repeated problems with pneumonia or bronchitis - swelling of the neck and face - loss of appetite or weight loss - fatigue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: A person who has had lung cancer once is more likely to develop a second lung cancer compared to a person who has never had lung cancer. Second cancers arise in a different site than the original cancer. If the original cancer returns after treatment, it is considered recurrent, not a second cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lung Cancer ? ### Response: Doctors can perform several tests to stage lung cancer. Staging means finding out how far the cancer has progressed. The following tests are used to stage lung cancer: - Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: - Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow the progress of the disease and to manage symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow the progress of the disease and to manage symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Targeted therapy, using drugs that go directly to a gene mutation and repair or block the mutation from causing cancer, are the current gold standard for treating some types of lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lung Cancer ? ### Response: Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Targeted therapy, using drugs that go directly to a gene mutation and repair or block the mutation from causing cancer, are the current gold standard for treating some types of lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as reading, sewing, and driving. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Age-related Macular Degeneration? ? ### Response: Risk Increases With Age AMD is most common in older people, but it can occur during middle age. The risk increases with age. Other Risk Factors Other risk factors include - Smoking - Obesity - Race. Whites are much more likely to lose vision from AMD than African-Americans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Age-related Macular Degeneration ? ### Response: AMD is detected during a comprehensive eye exam that includes a visual acuity test, a dilated eye exam, and tonometry. Tests for AMD - The visual acuity test is an eye chart test that measures how well you see at various distances. - In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Age-related Macular Degeneration ? ### Response: If You Have Advanced AMD Once dry AMD reaches the advanced stage, no form of treatment can prevent vision loss. However, treatment can delay and possibly prevent intermediate AMD from progressing to the advanced stage. The National Eye Institute's Age-Related Eye Disease Study found that taking certain vitamins and minerals may reduce the risk of developing advanced AMD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: Age-related macular degeneration, or AMD, is a disease that blurs the sharp, central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. AMD causes no pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: Age-related macular degeneration, or AMD, is a disease that blurs the sharp, central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. AMD causes no pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: Dry AMD occurs when the light-sensitive cells in the macula slowly break down, gradually blurring central vision in the affected eye. As dry AMD gets worse, you may see a blurred spot in the center of your vision. Over time, as less of the macula functions, central vision in the affected eye can be lost. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: Dry AMD has three stages -- early AMD, intermediate AMD, and advanced dry AMD. All of these may occur in one or both eyes. People with early dry AMD have either several small drusen or a few medium-sized drusen. Drusen are yellow deposits under the retina which often are found in people over age 50. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: Dry AMD has three stages -- early AMD, intermediate AMD, and advanced dry AMD. All of these may occur in one or both eyes. People with early dry AMD have either several small drusen or a few medium-sized drusen. Drusen are yellow deposits under the retina which often are found in people over age 50. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Age-related Macular Degeneration ? ### Response: Drusen alone do not usually cause vision loss. In fact, scientists are unclear about the connection between drusen and AMD. They do know that an increase in the size or number of drusen raises a person's risk of developing either advanced dry AMD or wet AMD. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Age-related Macular Degeneration ? ### Response: Drusen alone do not usually cause vision loss. In fact, scientists are unclear about the connection between drusen and AMD. They do know that an increase in the size or number of drusen raises a person's risk of developing either advanced dry AMD or wet AMD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Age-related Macular Degeneration ? ### Response: The most common symptom of dry AMD is slightly blurred vision. You may have difficulty recognizing faces. You may need more light for reading and other tasks. Dry AMD generally affects both eyes, but vision can be lost in one eye while the other eye seems unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Age-related Macular Degeneration ? ### Response: The most common symptom of dry AMD is slightly blurred vision. You may have difficulty recognizing faces. You may need more light for reading and other tasks. Dry AMD generally affects both eyes, but vision can be lost in one eye while the other eye seems unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Age-related Macular Degeneration ? ### Response: The most common symptom of dry AMD is slightly blurred vision. You may have difficulty recognizing faces. You may need more light for reading and other tasks. Dry AMD generally affects both eyes, but vision can be lost in one eye while the other eye seems unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: The AREDS formulation is a combination of antioxidants and zinc that is named for a study conducted by The National Eye Institute called the Age-Related Eye Disease Study, or AREDS. This study found that taking a specific high-dose formulation of antioxidants and zinc significantly reduced the risk of advanced AMD and its associated vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Age-related Macular Degeneration ? ### Response: The daily amounts used by the study researchers were 500 milligrams of vitamin C, 400 International Units of vitamin E, 15 milligrams of beta-carotene, 80 milligrams of zinc as zinc oxide, and 2 milligrams of copper as cupric oxide. Copper was added to the AREDS formulation containing zinc to prevent copper deficiency anemia, a condition associated with high levels of zinc intake. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Age-related Macular Degeneration ? ### Response: There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Age-related Macular Degeneration ? ### Response: There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Age-related Macular Degeneration ? ### Response: The National Eye Institute scientists are - studying the possibility of transplanting healthy cells into a diseased retina - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease - looking at certain anti-inflammatory treatments for the wet form of AMD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoarthritis ? ### Response: Affects Many Older People Osteoarthritis is the most common form of arthritis among older people, and it is one of the most frequent causes of physical disability among older adults. The disease affects both men and women. Before age 45, osteoarthritis is more common in men than in women. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Osteoarthritis ? ### Response: Risk Increases With Age Researchers suspect that osteoarthritis is caused by a combination of factors in the body and the environment. The chance of developing osteoarthritis increases with age. It is estimated that 33.6% (12.4 million) of individuals age 65 and older are affected by the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoarthritis ? ### Response: Pain and Stiffness in Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Osteoarthritis usually develops slowly and can occur in any joint, but often occurs in weight-bearing joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoarthritis ? ### Response: Treatment Goals: Manage Pain, Improve Function Osteoarthritis treatment plans often include ways to manage pain and improve function. Such plans can include exercise, rest and joint care, pain relief, weight control, medicines, surgery, and non-traditional treatment approaches. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoarthritis ? ### Response: Osteoarthritis is the most common form of arthritis among older people. It affects hands, low back, neck, and weight-bearing joints such as knees, hips, and feet. Osteoarthritis occurs when cartilage, the tissue that cushions the ends of the bones within the joints, breaks down and wears away. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoarthritis ? ### Response: Osteoarthritis is the most common form of arthritis among older people. It affects hands, low back, neck, and weight-bearing joints such as knees, hips, and feet. Osteoarthritis occurs when cartilage, the tissue that cushions the ends of the bones within the joints, breaks down and wears away. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Osteoarthritis ? ### Response: Osteoarthritis often results from years of wear and tear on joints. This wear and tear mostly affects the cartilage, the tissue that cushions the ends of bones within the joint. Osteoarthritis occurs when the cartilage begins to fray, wear away, and decay. Putting too much stress on a joint that has been repeatedly injured may lead to the development of osteoarthritis, too. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoarthritis ? ### Response: Warning signs of osteoarthritis include - joint pain - swelling or tenderness in one or more joints - stiffness after getting out of bed or sitting for a long time - a crunching feeling or sound of bone rubbing on bone. joint pain swelling or tenderness in one or more joints stiffness after getting out of bed or sitting for a long time a crunching feeling or sound of bone rubbing on bone. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteoarthritis ? ### Response: No single test can diagnose osteoarthritis. When a person feels pain in his or her joints, it may or may not be osteoarthritis. The doctor will use a combination of tests to try to determine if osteoarthritis is causing the symptoms. These may include a medical history, a physical examination, x-rays, and laboratory tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoarthritis ? ### Response: Warm towels, hot packs, or a warm bath or shower can provide temporary pain relief. Medications such as non-steroidal anti-inflammatory drugs, or NSAIDs, help reduce pain and inflammation that result from osteoarthritis. A doctor or physical therapist can recommend if heat or cold is the best treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoarthritis ? ### Response: People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoarthritis ? ### Response: Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoarthritis ? ### Response: For many people, surgery helps relieve the pain and disability of osteoarthritis. Surgery may be performed to achieve one or more of the following. - Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: Some women develop breast cancer and others do not, and the risk factors for the disease vary. Breast cancer may affect younger women, but three-fourths of all breast cancers occur in women between the ages of 45 to 85. In Situ and Invasive Breast Cancer Researchers often talk about breast cancer in two ways: in situ and invasive. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: What Is Cancer Prevention? Cancer prevention is action taken to lower the chance of getting cancer. By preventing cancer, the number of new cases of cancer in a group or population is lowered. Hopefully, this will lower the number of deaths caused by cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Breast Cancer ? ### Response: Most cancers in their early, most treatable stages do not cause any symptoms. That is why it's important to have regular tests to check for cancer long before you might notice anything wrong. Detecting Breast Cancer Through Screening When breast cancer is found early, it is more likely to be treated successfully. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: There are a number of treatments for breast cancer, but the ones women choose most often -- alone or in combination -- are surgery, hormone therapy, radiation therapy, and chemotherapy. What Standard Treatments Do Here is what the standard cancer treatments are designed to do. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Breast Cancer ? ### Response: New Technologies Several new technologies offer hope for making future treatment easier for women with breast cancer. - Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: Did You Know: Breast Cancer Statistics? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. Today, more women are surviving breast cancer than ever before. Over two million women are breast cancer survivors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Breast Cancer ? ### Response: When studying ways to prevent breast cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: A mammogram can often detect breast changes in women who have no signs of breast cancer. Often, it can find a breast lump before it can be felt. If the results indicate that cancer might be present, your doctor will advise you to have a follow-up test called a biopsy. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Breast Cancer? ? ### Response: The risks of breast cancer screening tests include the following. - Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: You can seek conventional treatment from a specialized cancer doctor, called an oncologist. The oncologist will usually assemble a team of specialists to guide your therapy. Besides the oncologist, the team may include a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Breast Cancer ? ### Response: Clinical trials are research studies on people to find out whether a new drug or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Once breast cancer has been found, it is staged. Staging means determining how far the cancer has progressed. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Standard treatments for breast cancer include - surgery that takes out the cancer and some surrounding tissue - radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - chemotherapy that uses anti-cancer drugs to kill cancer most cells - hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: There are two types of breast-conserving surgery -- lumpectomy and partial mastectomy. - Lumpectomy is the removal of the tumor and a small amount of normal tissue around it. A woman who has a lumpectomy almost always has radiation therapy as well. Most surgeons also take out some of the lymph nodes under the arm. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Even if the surgeon removes all of the cancer that can be seen at the time of surgery, a woman may still receive follow-up treatment. This may include radiation therapy, chemotherapy, or hormone therapy to try to kill any cancer cells that may be left. Treatment that a patient receives after surgery to increase the chances of a cure is called adjuvant therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Radiation therapy uses high-energy x-rays or other types of radiation to kill cancer cells and shrink tumors. This therapy often follows a lumpectomy, and is sometimes used after mastectomy. During radiation therapy, a machine outside the body sends high-energy beams to kill the cancer cells that may still be present in the affected breast or in nearby lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Chemotherapy is the use of drugs to kill cancer cells. A patient may take chemotherapy by mouth in pill form, or it may be put into the body by inserting a needle into a vein or muscle. Chemotherapy is called whole body or systemic treatment if the drug(s) enter the bloodstream, travel through the body, and kill cancer cells throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Breast Cancer ? ### Response: Certain drugs that have been used successfully in other cancers are now being used to treat some breast cancers. A mix of drugs may increase the length of time you will live, or the length of time you will live without cancer. In addition, certain drugs like Herceptin and Tykerb taken in combination with chemotherapy, can help women with specific genetic breast cancer mutations better than chemotherapy alone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glaucoma ? ### Response: Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. While glaucoma can strike anyone, the risk is much greater for people over 60. How Glaucoma Develops There are several different types of glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glaucoma ? ### Response: Nearly 2.7 million people have glaucoma, a leading cause of blindness in the United States. Although anyone can get glaucoma, some people are at higher risk. They include - African-Americans over age 40 - everyone over age 60, especially Hispanics/Latinos - people with a family history of glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glaucoma ? ### Response: Symptoms of Glaucoma Glaucoma can develop in one or both eyes. The most common type of glaucoma, open-angle glaucoma, has no symptoms at first. It causes no pain, and vision seems normal. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glaucoma ? ### Response: Although open-angle glaucoma cannot be cured, it can usually be controlled. While treatments may save remaining vision, they do not improve sight already lost from glaucoma. The most common treatments for glaucoma are medication and surgery. Medications Medications for glaucoma may be either in the form of eye drops or pills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glaucoma ? ### Response: Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. The most common form of the disease is open-angle glaucoma. With early treatment, you can often protect your eyes against serious vision loss. (Watch the video to learn more about glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glaucoma ? ### Response: Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. The most common form of the disease is open-angle glaucoma. With early treatment, you can often protect your eyes against serious vision loss. (Watch the video to learn more about glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glaucoma ? ### Response: Open-angle glaucoma is the most common form of glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When the fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Glaucoma? ? ### Response: Anyone can develop glaucoma. Some people are at higher risk than others. They include - African-Americans over age 40 - everyone over age 60, especially Hispanics/Latinos - people with a family history of glaucoma. African-Americans over age 40 everyone over age 60, especially Hispanics/Latinos people with a family history of glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Glaucoma ? ### Response: At this time, we do not know how to prevent glaucoma. However, studies have shown that the early detection and treatment of glaucoma, before it causes major vision loss, is the best way to control the disease. So, if you fall into one of the higher risk groups for the disease, make sure to have a comprehensive dilated eye exam at least once every one to two years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glaucoma ? ### Response: At first, open-angle glaucoma has no symptoms. It causes no pain. Vision seems normal. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glaucoma ? ### Response: Yes. Immediate treatment for early stage, open-angle glaucoma can delay progression of the disease. That's why early diagnosis is very important. Glaucoma treatments include medicines, laser surgery, conventional surgery, or a combination of any of these. While these treatments may save remaining vision, they do not improve sight already lost from glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Glaucoma ? ### Response: Through studies in the laboratory and with patients, the National Eye Institute is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Glaucoma ? ### Response: Through studies in the laboratory and with patients, the National Eye Institute is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glaucoma ? ### Response: National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov The Glaucoma Foundation 80 Maiden Lane, Suite 700 New York, NY 10038 212-285-0080 Glaucoma Research " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Disease ? ### Response: What the Kidneys Do You have two kidneys. They are bean-shaped and about the size of a fist. They are located in the middle of your back, on the left and right of your spine, just below your rib cage. The kidneys filter your blood, removing wastes and extra water to make urine. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Kidney Disease ? ### Response: Risk Factors Diabetes and high blood pressure are the two leading causes of kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. Other risk factors for kidney disease include: - cardiovascular (heart) disease - family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kidney Disease ? ### Response: Kidney Disease Kidney disease is often called a ""silent"" disease, because most people have no symptoms with early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! If you are at risk for kidney disease, talk to your health care provider about getting tested. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Disease ? ### Response: Different Treatments for Different Stages There are several types of treatments related to kidney disease. Some are used in earlier stages of kidney disease to protect your kidneys. These medications and lifestyle changes help you maintain kidney function and delay kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Disease ? ### Response: Kidney disease can get worse over time, and may lead to kidney failure. Kidney failure means advanced kidney damage with less than 15% normal function. Most people with kidney failure have symptoms from the build up of waste products and extra water in their body. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Kidney Disease ? ### Response: Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including - trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease - trying to find more effective medications to treat kidney disease and its risk factors, and - improving dialysis and the results of kidney transplantation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Disease ? ### Response: Kidney disease -- also known as chronic kidney disease (CKD) -- occurs when kidneys can no longer remove wastes and extra water from the blood or perform other functions as they should. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kidney Disease ? ### Response: Kidney disease is most often caused by diabetes or high blood pressure. Each kidney contains about one million tiny filters made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kidney Disease? ? ### Response: Diabetes and high blood pressure are the two leading risk factors for kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. There are several other risk factors for kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kidney Disease ? ### Response: Kidney disease is often called a ""silent"" disease, because most people have no symptoms in early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! Blood and urine tests are the only way to check for kidney damage or measure kidney function. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Disease ? ### Response: When you visit your doctor, here are questions to ask about your kidneys. - What is my GFR? - What is my urine albumin result? - What is my blood pressure? - What is my blood glucose (for people with diabetes)? What is my GFR? What is my urine albumin " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Disease ? ### Response: Treatments for early kidney disease include both diet and lifestyle changes and medications. Diet and lifestyle changes, such as eating heart healthy foods and exercising regularly to maintain a healthy weight, can help prevent the diseases that cause kidney damage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Disease ? ### Response: During your next health care visit, talk to your provider about your test results and how to manage your kidney disease. Below is a list of questions you may want to ask. Add any questions you think are missing, and mark those that are most important to you. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Disease ? ### Response: When your kidneys fail, they are no longer able to filter blood and remove waste from your body well enough to maintain health. Kidney failure causes harmful waste and excess fluid to build up in your body. Your blood pressure may rise, and your hands and feet may swell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kidney Disease ? ### Response: Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. To enlarge the video, click the brackets in the lower right-hand corner. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Disease ? ### Response: Instead of dialysis, some people with kidney failure -- including older adults -- may be able to receive a kidney transplant. This involves having a healthy kidney from another person surgically placed into your body. The new, donated kidney does the work that your two failed kidneys used to do. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Kidney Disease ? ### Response: There are many researchers who are working on kidney disease. They are looking for ways to improve diagnosis, make treatments more effective, and make dialysis and transplantation work better. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Arterial Disease (P.A.D.) ? ### Response: Arteries Clogged With Plaque Peripheral arterial disease (P.A.D.) is a disease in which plaque (plak) builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Peripheral Arterial Disease (P.A.D.) ? ### Response: What Causes P.A.D.? The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. The exact cause of atherosclerosis isn't known. Certain people are at higher risk for developing atherosclerosis. The disease may start if certain factors damage the inner layers of the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peripheral Arterial Disease (P.A.D.) ? ### Response: Common Symptoms Some people with P.A.D. do not have any symptoms. Others may have a number of signs and symptoms. People who have P.A.D. may notice symptoms when walking or climbing stairs. These symptoms may include pain, aching, or heaviness in the leg muscles. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Peripheral Arterial Disease (P.A.D.) ? ### Response: Your Family and Medical History P.A.D. is diagnosed based on a person's medical and family histories, a physical exam, and results from medical tests. To learn about your medical and family histories, your doctor may ask about - your risk factors for P.A.D. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Arterial Disease (P.A.D.) ? ### Response: Peripheral arterial disease (P.A.D.) is a disease in which plaque (plak) builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. P.A.D. currently affects millions of Americans, and about 1 in every 20 Americans over the age of 50 has P. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Peripheral Arterial Disease (P.A.D.)? ? ### Response: Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke. Smoking also raises your risk for other diseases, such as coronary heart disease (CHD). On average, smokers who develop P.A.D. have symptoms 10 years earlier than nonsmokers who develop P. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peripheral Arterial Disease (P.A.D.) ? ### Response: People who have P.A.D. may have symptoms when walking or climbing stairs. These may include pain, numbness, aching, or heaviness in the leg muscles. Symptoms may also include cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. Some possible signs of P. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Peripheral Arterial Disease (P.A.D.) ? ### Response: There are several tests used to diagnose P.A.D. These include - an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm. It shows how well blood is flowing in your limbs. - a Doppler ultrasound. This test uses sound waves to show whether a blood vessel is blocked. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Peripheral Arterial Disease (P.A.D.) ? ### Response: Treatment and prevention for P.A.D. often includes making long-lasting lifestyle changes, such as - quitting smoking - lowering blood pressure - lowering high blood cholesterol levels - lowering high blood glucose levels if you have diabetes - getting regular physical activity - following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peripheral Arterial Disease (P.A.D.) ? ### Response: Yes. In some people, lifestyle changes are not enough to control P.A.D. Surgery and other procedures may be needed. These may include bypass grafting surgery, angioplasty, a stent, or a procedure called atherectomy (ath-eh-REK-to-mee). - Your doctor may recommend bypass grafting surgery if blood flow in your limb is blocked or nearly blocked. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Peripheral Arterial Disease (P.A.D.) ? ### Response: The National Heart, Lung, and Blood Institute (NHLBI) supports research aimed at learning more about peripheral arterial disease (P.A.D.). For example, NHLBI-supported research on P.A.D. includes studies that - explore whether group walking sessions increase physical activity in people who have P. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Arterial Disease (P.A.D.) ? ### Response: Here are links to more information about P.A.D. from the National Heart, Lung, and Blood Institute. - What Is Peripheral Arterial Disease? - Atherosclerosis - The DASH Eating Plan - Facts about P.A.D. - Facts about P.A.D. (Spanish) - Facts About P. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rheumatoid Arthritis ? ### Response: An Inflammatory, Autoimmune Disease Rheumatoid arthritis is an inflammatory disease that causes pain, swelling, stiffness, and loss of function in the joints. It can cause mild to severe symptoms. Rheumatoid arthritis not only affects the joints, but may also attack tissue in the skin, lungs, eyes, and blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Rheumatoid Arthritis ? ### Response: Actual Cause Is Unknown Scientists believe that rheumatoid arthritis may result from the interaction of many factors such as genetics, hormones, and the environment. Although rheumatoid arthritis sometimes runs in families, the actual cause of rheumatoid arthritis is still unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rheumatoid Arthritis ? ### Response: Swelling and Pain in the Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rheumatoid Arthritis ? ### Response: Most Symptoms Are Treatable Doctors use a variety of approaches to treat rheumatoid arthritis. The goals of treatment are to help relieve pain, reduce swelling, slow down or help prevent joint damage, increase the ability to function, and improve the sense of well-being. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Rheumatoid Arthritis ? ### Response: Scientists are making rapid progress in understanding the complexities of rheumatoid arthritis. They are learning more about how and why it develops and why some people have more severe symptoms than others. Research efforts are focused on developing drugs that can reduce inflammation and slow or stop the disease with few side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rheumatoid Arthritis ? ### Response: Rheumatoid arthritis is an inflammatory disease that causes pain, swelling, stiffness, and loss of function in the joints. It can cause mild to severe symptoms. People with rheumatoid arthritis may feel sick, tired, and sometimes feverish. Sometimes rheumatoid arthritis attacks tissue in the skin, lungs, eyes, and blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Rheumatoid Arthritis ? ### Response: Scientists believe that rheumatoid arthritis may result from the interaction of many factors such as genetics, hormones, and the environment. Although rheumatoid arthritis sometimes runs in families, the actual cause of rheumatoid arthritis is still unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rheumatoid Arthritis ? ### Response: Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. The pain of rheumatoid arthritis varies greatly from person to person, for reasons that doctors do not yet understand completely. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Rheumatoid Arthritis ? ### Response: Rheumatoid arthritis can be difficult to diagnose in its early stages because the full range of symptoms develops over time, and only a few symptoms may be present in the early stages. As part of the diagnosis, your doctor will look for symptoms such as swelling, warmth, pain, and limitations in joint motion throughout your body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Rheumatoid Arthritis ? ### Response: There is no single, definitive test for rheumatoid arthritis. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rheumatoid Arthritis ? ### Response: Medication, exercise, and, in some cases, surgery are common treatments for this disease. Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. People with rheumatoid arthritis can also benefit from exercise, but they need to maintain a good balance between rest and exercise. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rheumatoid Arthritis ? ### Response: Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. Still others, called disease-modifying anti-rheumatic drugs or DMARDs, can often slow the course of the disease. - DMARDs include methotrexate, leflunomide, sulfasalazine, and cyclosporine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rheumatoid Arthritis ? ### Response: Rest. People with rheumatoid arthritis need a good balance between rest and exercise; they should rest more when the disease is active and exercise more when it is not. Rest helps to reduce active joint inflammation and pain and to fight fatigue. The length of time for rest will vary from person to person, but in general, shorter rest breaks every now and then are more helpful than long times spent in bed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Retinopathy ? ### Response: Can Cause Vision Loss, Blindness Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina in the back of the eye. A healthy retina is necessary for good vision. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diabetic Retinopathy ? ### Response: Who Is at Risk? All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic Retinopathy ? ### Response: Diabetic retinopathy often has no early warning signs. Don't wait for symptoms. Be sure to have a comprehensive dilated eye exam at least once a year to detect the disease before it causes damage to your vision. Vision Changes May Indicate Bleeding In the early stages of diabetic retinopathy, you may not notice any changes in your vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Retinopathy ? ### Response: Preventing Disease Progression During the first three stages of diabetic retinopathy, no treatment is needed, unless you have macular edema. To prevent progression of diabetic retinopathy, people with diabetes should control their levels of blood sugar, blood pressure, and blood cholesterol. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Retinopathy ? ### Response: Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina, the light-sensitive tissue at the back of the eye. A healthy retina is necessary for good vision. If you have diabetic retinopathy, at first you may notice no changes to your vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Retinopathy ? ### Response: The four stages of diabetic retinopathy are - mild nonproliferative retinopathy - moderate nonproliferative retinopathy - severe nonproliferative retinopathy - proliferative retinopathy mild nonproliferative retinopathy moderate nonproliferative retinopathy severe nonproliferative retinopathy proliferative retinopathy Nonproliferative retinopathy. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Diabetic Retinopathy? ? ### Response: All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diabetic Retinopathy ? ### Response: Blood vessels damaged from diabetic retinopathy can cause vision loss in two ways. Fragile, abnormal blood vessels can develop and leak blood into the center of the eye, blurring vision. This is proliferative retinopathy and is the fourth and most advanced stage of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diabetic Retinopathy ? ### Response: Blood vessels damaged from diabetic retinopathy can cause vision loss in two ways. Fragile, abnormal blood vessels can develop and leak blood into the center of the eye, blurring vision. This is proliferative retinopathy and is the fourth and most advanced stage of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic Retinopathy ? ### Response: At first, you will see a few specks of blood, or spots, ""floating"" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic Retinopathy ? ### Response: At first, you will see a few specks of blood, or spots, ""floating"" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Retinopathy ? ### Response: Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Retinopathy ? ### Response: During the first three stages of diabetic retinopathy, no treatment is needed, unless you have macular edema. To prevent progression of diabetic retinopathy, people with diabetes should control their levels of blood sugar, blood pressure, and blood cholesterol. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Retinopathy ? ### Response: Both focal and scatter laser treatment are performed in your doctor's office or eye clinic. Before the surgery, your doctor will dilate your pupil and apply drops to numb the eye. The area behind your eye also may be numbed to prevent discomfort. The lights in the office will be dim. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Retinopathy ? ### Response: If you have a lot of blood in the center of the eye, or vitreous gel, you may need a vitrectomy to restore your sight. If you need vitrectomies in both eyes, they are usually done several weeks apart. A vitrectomy is performed under either local or general anesthesia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Retinopathy ? ### Response: Yes. Both treatments are very effective in reducing vision loss. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Although both treatments have high success rates, they do not cure diabetic retinopathy. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Diabetic Retinopathy ? ### Response: The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diabetic Retinopathy ? ### Response: If you have diabetes, get a comprehensive dilated eye exam at least once a year. Proliferative retinopathy can develop without symptoms. If it gets to this advanced stage, you are at high risk for vision loss or even blindness. Macular edema can develop without symptoms at any of the four stages of diabetic retinopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Diabetic Retinopathy ? ### Response: If you have diabetes, get a comprehensive dilated eye exam at least once a year. Proliferative retinopathy can develop without symptoms. If it gets to this advanced stage, you are at high risk for vision loss or even blindness. Macular edema can develop without symptoms at any of the four stages of diabetic retinopathy. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Prescription and Illicit Drug Abuse ? ### Response: Many Reasons for Abuse Drug abuse, whether prescription or illicit drugs, can have serious consequences, particularly for older adults. That is why prevention is key. However, there are many different reasons why people abuse drugs and become addicted to them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prescription and Illicit Drug Abuse ? ### Response: Addiction is a chronic disease in which a person craves, seeks, and continues to abuse a legal (medication, alcohol, tobacco) or an illicit (illegal) drug, despite harmful consequences. People who are addicted continue to abuse the substance even though it can harm their physical or mental health, lead to accidents, or put others in danger. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prescription and Illicit Drug Abuse ? ### Response: Physical dependence is a normal process that can happen to anyone taking a medication for a long time. It means that the body (including the brain) is adapting to the presence of the drug, and the person may require a higher dosage or a different medication to get relief; this condition is known as tolerance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prescription and Illicit Drug Abuse ? ### Response: A persons behavior, especially changes in behavior, can signal a possible substance abuse problem. For example, you may notice that an older adult seems worried about whether a medicine is really working, or complains that a doctor refuses to write a prescription. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prescription and Illicit Drug Abuse ? ### Response: Medications affect older people differently than younger people because aging changes how the body and brain handle these substances. As we age, our bodies change and cannot break down and get rid of substances as easily as before. This means that even a small amount of a medicine or a drug can have a strong effect. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prescription and Illicit Drug Abuse ? ### Response: Medications affect older people differently than younger people because aging changes how the body and brain handle these substances. As we age, our bodies change and cannot break down and get rid of substances as easily as before. This means that even a small amount of a medicine or a drug can have a strong effect. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: Although under federal law, marijuana is illegal to use under any circumstance, in some states doctors are allowed to prescribe it for medical use. However, solid data on marijuanas health benefits is lacking, and for smoked marijuana many health experts have concerns about the potential negative effects on the lungs and respiratory system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prescription and Illicit Drug Abuse ? ### Response: Not always. Some warning signs, such as sleep problems, falls, mood swings, anxiety, depression, and memory problems -- can also be signs of other health conditions. As a result, doctors and family members often do not realize that an older person has a drug problem, and people may not get the help they need. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: Depending on the substance(s) involved, treatment may include medications, behavioral treatments, or a combination. A doctor, substance abuse counselor, or other health professional can determine the right treatment for an individual. Treatment helps people reduce the powerful effects of drugs on the body and brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: People can receive treatment as outpatients (they live at home and visit the doctor or other provider) or through inpatient services (they live temporarily at a special facility where they get treatment). The support of family and friends is important during the treatment process. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: The first step in a substance treatment program is often detoxification (detox), the process of allowing the body to get rid of the substance. Detoxification under medical supervision allows the symptoms of withdrawal to be treated, but is not addiction treatment in and of itself. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: Different types of medications may be useful at different stages of treatment to help a person stop abusing a substance, stay in treatment, focus on learning new behavioral skills, and avoid relapse. Currently, medications are available to treat addiction to opiates, nicotine, and alcohol, but none are yet approved for treating addiction to stimulants, marijuana, or depressants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: Behavioral treatment helps people change the way they think about the abused substance and teaches them how to handle or avoid situations that trigger strong drug cravings. Behavioral therapies can make treatment medications more effective, help people stay in treatment longer, and prevent relapse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prescription and Illicit Drug Abuse ? ### Response: Recovering from addiction is hard. Even with treatment, many people return to substance abuse, sometimes months or years after having stopped drug use. This is commonly referred to as relapse. As with most chronic diseases, relapse in addiction is not unusual, and signals a need to restart, adjust, or modify the treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COPD ? ### Response: Chronic obstructive pulmonary disease, or COPD, is a progressive lung disease in which the airways of the lungs become damaged, making it hard to breathe. You may also have heard COPD called other names, like emphysema or chronic bronchitis. In people who have COPD, the airways that carry air in and out of the lungs are partially blocked, making it difficult to get air in and out. " "Below is an instruction from Human. Write a response. ### Instruction: What causes COPD ? ### Response: Smoking Most cases of COPD develop over time, from breathing in fumes and other things that irritate the lungs. Some of the things that put you at risk for COPD include smoking, environmental exposure, and genetic factors. Cigarette smoking is the most common cause of COPD in the United States (either current or former smokers). " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent COPD ? ### Response: If you have COPD, you can take these steps to prevent complications and control the disabling effects of the disease. - Quit smoking. - Avoid exposure to pollutants and lung irritants. - Take precautions against the flu. - Talk to your doctor about the flu and pneumonia vaccines. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of COPD ? ### Response: Common Symptoms The most common symptoms of COPD are - a cough that does not go away - coughing up lots of sputum (mucus). a cough that does not go away coughing up lots of sputum (mucus). These symptoms often start years before the flow of air in and out of the lungs is reduced. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of COPD ? ### Response: Common Symptoms The most common symptoms of COPD are - a cough that does not go away - coughing up lots of sputum (mucus). a cough that does not go away coughing up lots of sputum (mucus). These symptoms often start years before the flow of air in and out of the lungs is reduced. " "Below is an instruction from Human. Write a response. ### Instruction: What causes COPD ? ### Response: COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to the body's organs and tissues, or when a complication, such as a severe infection, occurs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes COPD ? ### Response: Cigarette smoking is the most common cause of COPD. Most people with COPD are smokers or have been smokers in the past. Breathing in other fumes and dusts over long periods of time can also lead to COPD. Pipe, cigar, and other types of tobacco smoking can cause COPD, especially if the smoke is inhaled. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of COPD ? ### Response: The most common symptoms of COPD are a cough that does not go away and coughing up a lot of sputum (mucus). These symptoms may occur years before lung damage has reduced the flow of air in and out of the lungs. Other symptoms of COPD include shortness of breath, especially with exercise; wheezing (a whistling sound when you breathe); and tightness in the chest. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose COPD ? ### Response: To confirm a COPD diagnosis, a doctor will use a breathing test called spirometry. The test is easy and painless. It shows how well the lungs are working. The spirometer measures how much air the lungs can hold and how fast air is blown out of the lungs. Other tests, such as bronchodilator reversibility testing, a chest X-ray, and arterial blood gas test, may be ordered. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for COPD ? ### Response: Treatment for COPD can be different for each person and is based on whether symptoms are mild, moderate or severe. Treatments include medication, pulmonary or lung rehabilitation, oxygen treatment, and surgery. There are also treatments to manage complications or a sudden onset of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose COPD ? ### Response: If you have not been exercising regularly, you should get the advice of your doctor before starting. The symptoms of COPD are different for each person. People with mild COPD may not have much difficulty walking or exercising. As the symptoms of COPD get worse over time, a person may have more difficulty with walking and exercising. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent COPD ? ### Response: If you smoke, the most important thing you can do to prevent more lung damage is to stop smoking. It is also important to stay away from people who smoke and places where you know there will be smokers. Avoid exposure to pollutants like dust, fumes, and poor air quality, and take precautions to prevent flu and pneumonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for COPD ? ### Response: Bronchodilators and inhaled steroids are two medications used to treat COPD. Bronchodilators work by relaxing the muscles around the airways, opening them and making it easier to breathe. People with mild COPD take bronchodilators using an inhaler only when needed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of COPD ? ### Response: Call your doctor right away if your symptoms worsen suddenly. People with COPD may have symptoms that suddenly get worse. When this happens, you have a much harder time catching your breath. Symptoms that worsen suddenly can include sudden chest tightness, more coughing, a change in your sputum (mucus), or fever. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COPD ? ### Response: More information on COPD is available at: What is COPD? and at the Learn More, Breathe Better Campaign For information on quitting smoking, visit http://www.surgeongeneral.gov/tobacco/ or Smokefree.gov. For information on the H1N1 flu and COPD, go to The Centers for Disease Control and Prevention. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Medicare is a federal health insurance program for people - age 65 and older - under age 65 with certain disabilities who have been receiving Social Security disability benefits for a certain amount of time (24 months in most cases) - of any age who have End-Stage Renal Disease (ESRD), which is permanent kidney failure requiring dialysis or a transplant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Medicare Part A is hospital insurance that helps cover inpatient care in hospitals. Part A also helps cover skilled nursing facility care for a limited period of time, hospice care, and home health care, if you meet certain conditions. Most people don't have to pay a monthly premium for Medicare Part A when they turn age 65 because they or a spouse paid Medicare taxes while they were working. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Medicare Part B is medical insurance. It helps cover medical services such as doctor's services, outpatient care and other medical services that Part A doesn't cover. Part B also covers some preventive services, such as flu shots and diabetes screening, to help you maintain your health and to keep certain illnesses from getting worse. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Medicare Advantage Plans, sometimes known as Medicare Part C, are plans people can join to get their Medicare benefits. Medicare Advantage Plans are available in many areas of the country, and a person who joins one of these plans will get all Medicare-covered benefits. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Medicare Part D helps pay for medications that a doctor may prescribe. This coverage may help lower prescription drug costs. Medicare drug plans are run by insurance companies and other private companies approved by Medicare. A person who joins Original Medicare and who wants prescription drug coverage will need to choose and sign up for a Medicare Prescription Drug plan (PDP). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Original Medicare is managed by the Federal government and lets people with Medicare go to any doctor, hospital or other health care provider who accepts Medicare. It is a fee-for-service plan, meaning that the person with Medicare usually pays a fee for each service. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: People who choose Original Medicare may wish to consider Medigap, a type of Medicare supplement insurance. Medigap policies are sold by private insurance companies to fill gaps in Original Medicare Plan coverage, such as out-of-pocket costs for Medicare co-insurance and deductibles, or for services not covered by Medicare. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Home health care is short-term skilled care at home after hospitalization or for the treatment of an illness or injury. Home health agencies provide home care services, including skilled nursing care, physical therapy, occupational therapy, speech therapy, medical social work, and care by home health aides. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Here are some questions to ask when considering choosing a nursing home. You may want to make surprise visits at different times of the day to verify conditions. - Is the nursing home Medicare- or Medicaid-certified? - Does the nursing home have the level " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Medicare and Continuing Care ? ### Response: Nursing home care can be very expensive. Medicare generally doesn't cover nursing home care. There are many ways people can pay for nursing home care. For example, they can use their own money, they may be able to get help from their state, or they may use long-term care insurance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Medicare does cover skilled nursing care after a 3-day qualifying hospital stay. Skilled care is health care given when the person needs skilled nursing or rehabilitation staff to manage, observe, and evaluate his or her care. Care that can be given by non-professional staff isn't considered skilled care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: Hospice care is a special way of caring for people who are terminally ill (dying) and helping their families cope. Hospice care includes treatment to relieve symptoms and keep the individual comfortable. The goal is to provide end-of-life care, not to cure the illness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medicare and Continuing Care ? ### Response: The general number for Medicare is 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048. You can also visit http://www.medicare.gov. The ""Medicare & You"" handbook is mailed out to all Medicare enrollees in the fall. It includes detailed information about all aspects of Medicare. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Mouth ? ### Response: Dry mouth is the feeling that there is not enough saliva in the mouth. Everyone has dry mouth once in a while -- if they are nervous, upset, under stress, or taking certain medications. But if you have dry mouth all or most of the time, see a dentist or physician. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Mouth ? ### Response: People get dry mouth when the glands in the mouth that make saliva are not working properly. Because of this, there might not be enough saliva to keep your mouth healthy. There are several reasons why these glands, called salivary glands, might not work right. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Mouth ? ### Response: Treatment for Dry Mouth Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Mouth ? ### Response: Dry mouth is the condition of not having enough saliva, or spit, to keep your mouth wet. Everyone has dry mouth once in a while -- if they are nervous, upset, or under stress. But if you have dry mouth all or most of the time, it can be uncomfortable and lead to serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Mouth ? ### Response: Saliva does more than keep your mouth wet. It helps digest food, protects teeth from decay, helps to heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva is also what helps us chew and swallow. Each of these functions of saliva is hampered when a person has dry mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Mouth ? ### Response: Dry mouth can cause several problems, including difficulty tasting, chewing, swallowing, and speaking. Swallowing may be especially difficult for those with too little saliva. For example, people with dry mouth may be unable to swallow dry food at all unless they also drink fluids with food. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dry Mouth ? ### Response: Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, and swallowing without extra fluids can often be difficult. Also, people with dry mouth may develop mouth sores, cracked lips, and a dry, rough tongue. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Mouth ? ### Response: Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Mouth ? ### Response: Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Mouth ? ### Response: Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Mouth ? ### Response: Sjgren's Syndrome Clinic National Institute of Dental and Craniofacial Research Building 10, Room 1N113 10 Center Drive MSC 1190 Bethesda, MD 20892-1190 301-435-8528 http://www.nidcr.nih.gov/Research/NIDCRLaboratories/ MolecularPhysiology/SjogrensSyndrome/default. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Mouth ? ### Response: For information about the clinical trial on this topic, visit: http://www.clinicaltrials.gov/ct/show/NCT00372320?order=1. If you would like to read an interview with Dr. Bruce Baum, the study's principal investigator, click on: http://www.nidcr.nih.gov/Research/ ResearchResults/InterviewsOHR/TIS032007. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Mouth ? ### Response: Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Mouth ? ### Response: Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Mouth ? ### Response: Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Tract Infections ? ### Response: A Common Problem With Aging Urinary tract infections (UTIs) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Tract Infections ? ### Response: Most urinary tract infections, or UTIs, are caused by bacteria that enter the urethra and then the bladder. A type of bacteria that normally lives in the bowel (called E. coli) causes most UTIs. UTIs can also be caused by fungus (another type of germ). Who Gets UTIs? Although everyone has some risk for UTIs, some people are more likely to get UTIs than others. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urinary Tract Infections ? ### Response: Symptoms of a urinary tract infection (UTI) in the bladder may include - cloudy, bloody, or foul-smelling urine - pain or burning during urination - strong and frequent need to urinate, even right after emptying the bladder - a mild fever below 101 degrees Fahrenheit in some people. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Tract Infections ? ### Response: Changing some of these daily habits may help prevent urinary tract infections (UTIs). - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Tract Infections ? ### Response: Urinary tract infections (UTI) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urinary Tract Infections ? ### Response: Symptoms of a UTI in the bladder may include - cloudy, bloody, or foul-smelling urine - pain or burning during urination - strong and frequent need to urinate, even right after emptying the bladder - a mild fever below 101 degrees Fahrenheit in some people. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Urinary Tract Infections? ? ### Response: Although everyone has some risk for UTIs, some people are more likely to get UTIs than others. These include people who have - spinal cord injuries or other nerve damage around the bladder - a blockage in the urinary tract that can trap urine in the bladder. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Urinary Tract Infections ? ### Response: Changing some of these daily habits may help prevent UTIs. - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. Wipe from front to back after using the toilet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Tract Infections ? ### Response: Because most UTIs are caused by bacteria, bacteria-fighting medications called antibiotics are the usual treatment. The type of antibiotic and length of treatment depend on the patients history and the type of bacteria causing the infection. Bladder infections may eventually get better on their own. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: If tests show that you have cancer, you should talk with your doctor in order to make treatment decisions. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Choosing Treatment There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatments and their possible side effects. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Prostate Cancer ? ### Response: Scientists continue to look at new ways to prevent, treat, and diagnose prostate cancer. Research has already led to a number of advances in these areas. Dietary Research Several studies are under way to explore the causes of prostate cancer. Some researchers think that diet may affect a man's chances of developing prostate cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: The prostate is a male sex gland, about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer occurs when a tumor forms in the tissue of the prostate. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Prostate Cancer ? ### Response: Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: Sometimes, cancer cells break away from the malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer, not bone cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prostate Cancer ? ### Response: Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Age is the most important risk factor for prostate cancer. The disease is extremely rare in men under age 40, but the risk increases greatly with age. More than 60 percent of cases are diagnosed in men over age 65. The average age at the time of diagnosis is 65. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Yes. Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. A man's risk for developing prostate cancer is higher if his father or brother has had the disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Yes. Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. A man's risk for developing prostate cancer is higher if his father or brother has had the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prostate Cancer ? ### Response: - a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine a need to urinate frequently, especially at night difficulty starting urination or holdin " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prostate Cancer ? ### Response: Yes. Any of the symptoms caused by prostate cancer may also be due to enlargement of the prostate, which is not cancer. If you have any of the symptoms mentioned in question #10, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prostate Cancer ? ### Response: Doctors use tests to detect prostate abnormalities, but tests cannot show whether abnormalities are cancer or another, less serious condition. The results from these tests will help the doctor decide whether to check the patient further for signs of cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prostate Cancer ? ### Response: The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatments and their possible side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: With watchful waiting, a man's condition is closely monitored, but treatment does not begin until symptoms appear or change. The doctor may suggest watchful waiting for some men who have prostate cancer that is found at an early stage and appears to be growing slowly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: Surgery is a common treatment for early stage prostate cancer. It is used to remove the cancer. The surgeon may remove the entire prostate -- a type of surgery called radical prostatectomy -- or, in some cases, remove only part of it. Sometimes the surgeon will also remove nearby lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Radiation therapy uses high-energy x-rays to kill cancer cells and shrink tumors. Doctors may recommend it instead of surgery or after surgery to destroy any cancer cells that may remain in the area. In advanced stages, the doctor may recommend it to relieve pain or other symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Hormonal therapy deprives cancer cells of the male hormones they need to grow and survive. This treatment is often used for prostate cancer that has spread to other parts of the body. Sometimes doctors use hormonal therapy to try to keep the cancer from coming back after surgery or radiation treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Regardless of the type of treatment you receive, you will be closely monitored to see how well the treatment is working. Monitoring may include - a PSA blood test, usually every 3 months to 1 year. - bone scan and/or CT scan to see if the cancer has spread. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prostate Cancer ? ### Response: Through research, doctors are trying to find new, more effective ways to treat prostate cancer. Cryosurgery -- destroying cancer by freezing it -- is under study as an alternative to surgery and radiation therapy. To avoid damaging healthy tissue, the doctor places an instrument known as a cryoprobe in direct contact with the tumor to freeze it. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Prostate Cancer? ? ### Response: Researchers are studying changes in genes that may increase the risk for developing prostate cancer. Some studies are looking at the genes of men who were diagnosed with prostate cancer at a relatively young age, less than 55 years old, and the genes of families who have several members with the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. What Is Blood Pressure? Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes High Blood Pressure ? ### Response: Changes in Body Functions Researchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include - kidney fluid and salt balances - the renin-angiotensin-aldosterone system - the sympathetic nervous system activity - blood vessel structure and function. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for High Blood Pressure? ? ### Response: Not a Normal Part of Aging Nearly 1 in 3 American adults have high blood pressure. Many people get high blood pressure as they get older. However, getting high blood pressure is not a normal part of aging. There are things you can do to help keep your blood pressure normal, such as eating a healthy diet and getting more exercise. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent High Blood Pressure ? ### Response: Steps You Can Take You can take steps to prevent high blood pressure by adopting these healthy lifestyle habits. - Follow a healthy eating plan. - Be physically active. - Maintain a healthy weight. - If you drink alcoholic beverages, do so in moderation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High Blood Pressure ? ### Response: High blood pressure is often called the ""silent killer"" because you can have it for years without knowing it. The only way to find out if you have high blood pressure is to have your blood pressure measured. Complications When blood pressure stays high over time, it can damage the body and cause complications. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. If your blood pressure rises and stays high over time, its called high blood pressure. High blood pressure is dangerous because it makes the heart work too hard, and the high force of the blood flow can harm arteries and organs such as the heart, kidneys, brain, and eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. There are two main types of high blood pressure: primary and secondary high blood pressure. Primary, or essential, high blood pressure is the most common type of high blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Abnormal blood pressure is higher than 120/80 mmHg. If either your systolic or diastolic blood pressure is higher than normal (120/80) but not high enough to be considered high blood pressure (140/90), you have pre-hypertension. Pre-hypertension is a top number between 120 and 139 or a bottom number between 80 and 89 mmHg. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent High Blood Pressure ? ### Response: You can take steps to help prevent high blood pressure by adopting these healthy lifestyle habits. - Follow a healthy eating plan like DASH (Dietary Approaches to Stop Hypertension), which emphasizes fruits, vegetables, fat-free and low-fat milk and milk products, and whole grains, fish, poultry, beans, seeds, and nuts, and choose and prepare foods with less sodium (salt). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for High Blood Pressure ? ### Response: High blood pressure is treated with lifestyle changes and medicines. Treatment can help control blood pressure, but it will not cure high blood pressure, even if your blood pressure readings appear normal. If you stop treatment, your blood pressure and risk for related health problems will rise. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for High Blood Pressure ? ### Response: In most cases, the goal is probably to keep your blood pressure below 140/90 mmHg (130/80 if you have diabetes or chronic kidney disease). Normal blood pressure is less than 120/80. Ask your doctor what your blood pressure goal should be. If you have high blood pressure, you will need to treat it and control it for life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for High Blood Pressure ? ### Response: Today, many different types of medicines are available to control high blood pressure. These medicines work in different ways. Some lower blood pressure by removing extra fluid and salt from your body. Others affect blood pressure by slowing down the heartbeat, or by relaxing and widening blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent High Blood Pressure ? ### Response: Two key measures are used to determine if someone is overweight or obese. These are body mass index, or BMI, and waist circumference. Body mass index (BMI) is a measure of weight in relation to height, and provides an estimate of your total body fat. As your BMI goes up, so do your chances of getting high blood pressure, heart disease, and other health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Blood pressure rises as body weight increases. Losing even 10 pounds can lower blood pressure -- and it has the greatest effect for those who are overweight and already have hypertension. If you are overweight or obese, work with your health care provider to develop a plan to help you lower your weight and maintain a healthy weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: ""DASH"" stands for ""Dietary Approaches to Stop Hypertension."" This is the name of a clinical study that tested the effects of nutrients in food on blood pressure. Study results indicated that you can reduce high blood pressure by following an eating plan that emphasizes fruits, vegetables, and fat-free or low-fat milk and milk products, and that is low in saturated fat, cholesterol, total fat, and added sugars. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG), and baking soda. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Older adults should limit their sodium (salt) intake to 1,500 mg a day. That's about 2/3 of a teaspoon of salt. Here are tips to reduce salt in your diet. - Buy fresh, plain frozen, or canned with no salt added vegetables. Choose foods packed in water instead of broth or salt. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Failure ? ### Response: In heart failure, the heart cannot pump enough blood to meet the body's needs. In some cases, the heart cannot fill with enough blood. In other cases, the heart can't pump blood to the rest of the body with enough force. Some people have both problems. Heart failure develops over time as the pumping action of the heart gets weaker. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Failure ? ### Response: Heart failure is caused by other diseases or conditions that damage the heart muscle such as coronary artery disease (including heart attacks), diabetes, and high blood pressure. Treating these problems can prevent or improve heart failure. Coronary Artery Disease Coronary artery disease is a leading cause of death in men and women. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Failure ? ### Response: Common Symptoms The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling usually occurs in the ankles, feet, legs, and sometimes in the abdomen. Swelling is caused by fluid buildup in the body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Failure ? ### Response: Diagnosing Heart Failure There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Failure ? ### Response: There is no cure for heart failure, but it can be controlled by treating the underlying conditions that cause it. Treatment for heart failure will depend on the type and stage of heart failure (the severity of the condition). The goals for treatment of all stages of heart failure are to reduce symptoms, treat the cause (such as heart disease, high blood pressure, or diabetes), stop the disease from worsening, and prolong life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Failure ? ### Response: In heart failure, the heart cannot pump enough blood through the body. Heart failure develops over time as the pumping action of the heart gets weaker. Heart failure does not mean that the heart has stopped working or is about to stop working. When the heart is weakened by heart failure, blood and fluid can back up into the lungs and fluid builds up in the feet, ankles, and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Failure ? ### Response: Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Failure ? ### Response: The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling is caused by fluid build-up in the body. Fluid buildup can lead to weight gain and frequent urination, as well as coughing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Failure ? ### Response: The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling is caused by fluid build-up in the body. Fluid buildup can lead to weight gain and frequent urination, as well as coughing. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Failure? ? ### Response: Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Heart Failure ? ### Response: Ways to prevent heart failure include - keeping your cholesterol and blood pressure levels healthy - keeping diabetes in check - maintaining a healthy weight - quitting smoking - following a heart healthy diet - limiting the amount of alcohol you drink - eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Failure ? ### Response: Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or ""bad,"" cholesterol depends on how many other risk factors you have. Here are recommended LDL cholesterol goals. - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Failure ? ### Response: There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. During a physical exam, a doctor will listen for abnormal heart sounds and lung sounds that indicate fluid buildup, as well as look for signs of swelling. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Failure ? ### Response: Once initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. There are several tests that can identify the cause of heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Failure ? ### Response: Once initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. There are several tests that can identify the cause of heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Failure ? ### Response: Lifestyle changes to treat heart failure may include - reducing salt and fluid intake - following a heart healthy diet - adopting a plan to lose weight - quitting smoking - engaging in physical activity. reducing salt and fluid intake following a heart healthy diet adopting a plan to lose weight quitting smoking engaging in physical activity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Failure ? ### Response: Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Failure ? ### Response: Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Failure ? ### Response: Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Taste ? ### Response: Taste, or gustation, is one of our most robust senses. Although there is a small decline in taste in people over 60, most older people will not notice it because normal aging does not greatly affect our sense of taste. Problems with taste occur less frequently than problems with smell. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Problems with Taste ? ### Response: Loss of taste may be permanent or temporary, depending on the cause. As with vision and hearing, people gradually lose their ability to taste as they get older, but it is usually not as noticeable as loss of smell. Medications and illness can make the normal loss of taste worse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Problems with Taste ? ### Response: Symptoms Vary With Disorders There are several types of taste disorders depending on how the sense of taste is affected. People who have taste disorders usually lose their ability to taste or can no longer perceive taste in the same way. True taste disorders are rare. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Problems with Taste ? ### Response: Relief Is Possible Although there is no treatment for any gradual loss of taste that occurs with aging, relief from taste disorders is possible for many older people. Depending on the cause of your problem with taste, your doctor may be able to treat it or suggest ways to cope with it. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Problems with Taste ? ### Response: The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Taste ? ### Response: Taste is the ability to detect different sensations in the mouth, such as sweet or salty. It is part of your body's chemical sensing system. Taste combines with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Taste ? ### Response: Taste is the ability to detect different sensations in the mouth, such as sweet or salty. It is part of your body's chemical sensing system. Taste combines with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Problems with Taste ? ### Response: The most common causes of taste disorders are medications, infections, head trauma, and dental problems. Most people who have a problem with taste are taking certain medications or they have had a head or neck injury. Gum disease, dry mouth, and dentures can contribute to taste problems, too. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Problems with Taste ? ### Response: Problems with taste that occur with aging cannot be prevented. However you may be able to protect yourself against other causes of taste loss with these steps. - Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Problems with Taste ? ### Response: Yes. Certain medicines can cause a change in our ability to taste. The medicines that most frequently do this are certain antibiotics and some antihistamines, although other medications can affect our sense of taste as well. If your medicine is causing a problem with your sense of taste, your doctor may be able to adjust or change your medicine. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Problems with Taste ? ### Response: Doctors can diagnose a taste disorder by measuring the lowest concentration of a substance that a person can detect. The doctor may also ask a patient to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Problems with Taste ? ### Response: Depending on the cause of your taste disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the problem, your doctor may be able to adjust or change your medicine. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Taste ? ### Response: You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of my t " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Problems with Taste ? ### Response: The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Depression ? ### Response: Everyone feels blue or sad now and then, but these feelings don't usually last long and pass within a couple of days. When a person has depression, it interferes with daily life and normal functioning, and causes pain for both the person with depression and those who care about him or her. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Depression ? ### Response: Several lines of research have shown that depressive illnesses are disorders of the brain. But the exact causes for these illnesses are not yet clear and are still being studied. Changes in the Brain Imaging technologies show that the brains of people with depression look different or are working differently than those who do not have the illness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Depression ? ### Response: Common Symptoms There are many symptoms associated with depression, and some will vary depending on the individual. However, some of the most common symptoms are listed below. If you have several of these symptoms for more than two weeks, you may have depression. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Depression ? ### Response: Treating Older Adults Studies show that the majority of older adults with depression improve when they receive treatment with an antidepressant, psychotherapy or a combination of both. In addition, research has indicated that treating depression in older adults often improves the outcomes of co-existing medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Depression ? ### Response: Treating Older Adults Studies show that the majority of older adults with depression improve when they receive treatment with an antidepressant, psychotherapy or a combination of both. In addition, research has indicated that treating depression in older adults often improves the outcomes of co-existing medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Depression ? ### Response: Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with your ability to work, sleep, concentrate, eat, and enjoy activities you once liked. Major depression keeps a person from functioning normally. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Depression? ? ### Response: The risk factors for depression are family history, life experiences, and environment. If you have depression, you may have experienced it when you were younger, and may have a family history of the illness. You may also be going through difficult life events, such as physical or psychological trauma, losing a loved one, a difficult relationship with a family member or friend, or financial troubles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Depression ? ### Response: Medications called antidepressants work to normalize brain chemicals called neurotransmitters, notably serotonin, norepinephrine, and dopamine. Scientists studying depression have found that these chemicals, and possibly others, are involved in regulating mood, but they are unsure of exactly how they work. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Depression ? ### Response: A bushy, wild-growing plant with yellow flowers, St John's wort has been used for centuries in many folk and herbal remedies. It is commonly used in Europe to treat mild depression, and it is a top-seller in the United States as well. In a study funded by the National Institutes of Health, the herb was found to be no more effective than a placebo (sugar pill) in treating adults suffering from major depression. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Depression ? ### Response: Several studies are looking at ways to help older adults get better access to depression treatment. One is developing and testing an education and intervention program to help primary care clinics and providers identify and treat late-life depression. Another study found that depressed older adults who had a ""care manager"" monitor their symptoms, side effects, and progress got better more quickly -- and stayed better longer -- than those who did not have case-managed care. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Creating a Family Health History? ? ### Response: Diseases Can Have Various Causes Many things influence your overall health and likelihood of developing a disease. Sometimes, it's not clear what causes a disease. Many diseases are thought to be caused by a combination of genetic, lifestyle, and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Creating a Family Health History? ? ### Response: Diseases Can Have Various Causes Many things influence your overall health and likelihood of developing a disease. Sometimes, it's not clear what causes a disease. Many diseases are thought to be caused by a combination of genetic, lifestyle, and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creating a Family Health History ? ### Response: A heritable disease is caused by a mutation, or harmful change, in a gene inherited from a parent. Genes are small structures in your body's cells that determine how you look and tell your body how to work. Examples of heritable diseases are Huntington's disease, sickle cell anemia, and muscular dystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creating a Family Health History ? ### Response: Common health problems that can run in a family include - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Creating a Family Health History ? ### Response: Yes. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Creating a Family Health History ? ### Response: People can't change the genes they inherit from their parents, but they can change other things to prevent diseases that run in the family. This is good news because many diseases result from a combination of a person's genes, lifestyle, and environment. Actions to reduce the risk of disease may involve lifestyle changes, such as eating healthier foods, exercising more, getting certain medical tests, and taking medicines that are more effective based on your specific genes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creating a Family Health History ? ### Response: Here are important questions to ask your blood relatives. - What is your age or date of birth? - Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? - Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creating a Family Health History ? ### Response: Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creating a Family Health History ? ### Response: Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creating a Family Health History ? ### Response: Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Creating a Family Health History ? ### Response: Finding out your test results can affect you emotionally. Learning that you are someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results. Covering the costs of testing can also be a challenge. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Too Much Glucose in the Blood Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Diabetes? ? ### Response: Diabetes is a serious, life-long disease. It can lead to problems such as heart disease, stroke, vision loss, kidney disease, and nerve damage. More than 8 million people in the United States have type 2 diabetes and dont know it. Many people dont find out they have diabetes until they are faced with problems such as blurry vision or heart trouble. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diabetes ? ### Response: The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that type 2 diabetes can be prevented or delayed in people at risk for the disease. Preventing type 2 diabetes can mean a healthier and longer life without serious complications from the disease such as heart disease, stroke, blindness, kidney failure, and amputations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetes ? ### Response: Diabetes is often called a ""silent"" disease because it can cause serious complications even before you have symptoms. Symptoms can also be so mild that you dont notice them. An estimated 8 million people in the United States have type 2 diabetes and dont know it, according to 2012 estimates by the Centers for Disease Control and Prevention (CDC). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes ? ### Response: Diabetes cannot be cured, but it can be managed. Managing blood glucose (blood sugar) as well as blood pressure and cholesterol is the best defense against the serious complications of diabetes. Know What To Do Every Day To manage your diabetes, here are things to do every day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also made in your liver and muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Studies have shown that most people with prediabetes develop type 2 diabetes within a few years, unless they change their lifestyle. Most people with prediabetes dont have any symptoms. Your doctor can test your blood to find out if your blood glucose levels are higher than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetes ? ### Response: Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diabetes ? ### Response: Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the body's own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the insulin-producing cells in the pancreas in people with type 1 diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes ? ### Response: Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, and heart, gums and teeth. If you have diabetes, you are more likely than someone who does not have diabetes to have heart disease or a stroke. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Diabetes? ? ### Response: Here are the risk factors for type 2 diabetes. - being over 45 years of age - being overweight or obese - having a first-degree relative -- a parent, brother, or sister -- with diabetes - being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diabetes ? ### Response: The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that making modest lifestyle changes can prevent or delay type 2 diabetes in people at risk for the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes ? ### Response: People with type 1 diabetes control their blood sugar with insulin -- either with shots or an insulin pen. Many people with type 2 diabetes can control blood glucose levels with diet and exercise alone. Others require oral medications or insulin, and some people may need to take both, along with lifestyle modification. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Heart disease and stroke are the leading causes of death for people with diabetes. Controlling the ABCs of diabetes -- your blood glucose, your blood pressure, and your cholesterol, as well as stopping smoking -- can help prevent these and other complications from diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetes ? ### Response: See your health care team at least twice a year to find and treat any problems early. Ask what steps you can take to reach your goals. If you have diabetes, take these steps. At each visit, be sure you have a - blood pressure check - foot check - weight check - review of your self-care plan. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: People with diabetes should - do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diabetes ? ### Response: Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. It can also cause high blood pressure. If you are overweight or obese, choose sensible ways to reach and maintain a reasonable body weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Eye ? ### Response: Poor Tear Production Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Eye ? ### Response: Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of surgery, environmental factors, and allergies. Many Older People Have Dry Eye Elderly people often have dryness of the eyes, but dry eye can occur at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Eye ? ### Response: Self Care - Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. - Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Eye ? ### Response: Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Eye ? ### Response: There are two types of dry eye: aqueous tear-deficient dry eye and evaporative dry eye. Aqueous tear-deficient dry eye is a disorder in which the tear glands do not produce enough of the watery component of tears to maintain a healthy eye surface, called the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Eye ? ### Response: There are two types of dry eye: aqueous tear-deficient dry eye and evaporative dry eye. Aqueous tear-deficient dry eye is a disorder in which the tear glands do not produce enough of the watery component of tears to maintain a healthy eye surface, called the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Eye ? ### Response: The cornea is the clear, dome-shaped outer surface that covers the eye in front of the iris, which is the colored part of the eye. The cornea helps protect the rest of the eye from germs, dust, and other harmful matter. The cornea is a highly organized, clear structure made up of a group of cells and proteins precisely arranged in layers, but it has no blood vessels to nourish or protect it against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dry Eye ? ### Response: If your eyes dont make enough tears it can cause dry eye. Anything that changes the components of tears can cause dry eye. Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of eye surgery, environmental factors, and allergies. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dry Eye ? ### Response: Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily environment (exposure to environmental allergens or occupational hazards). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Eye ? ### Response: Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dry Eye ? ### Response: Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Alzheimers disease is a brain disease that slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks. It begins slowly and gets worse over time. Currently, it has no cure. A Common Cause of Dementia Alzheimers disease is the most common cause of dementia among older people. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alzheimer's Disease ? ### Response: There are two types of Alzheimers diseaseearly-onset and late-onset. Early-onset Alzheimers is a rare form of the disease that occurs in people age 30 to 60. It occurs in less than 5 percent of all people with Alzheimers. Almost all people with Alzheimers disease have late-onset Alzheimer's, which usually develops after age 60. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alzheimer's Disease ? ### Response: Alzheimer's disease varies from person to person so not everyone will have the same symptoms. Also, the disease progresses faster in some people than in others. In general, though, Alzheimers takes many years to develop and becomes increasingly severe over time. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alzheimer's Disease ? ### Response: Currently, no medicines or other treatments are known to prevent Alzheimers disease, but scientists are studying many possibilities. These possibilities include lifestyle factors such as exercise and physical activity, a healthy diet, and mentally stimulating activities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alzheimer's Disease ? ### Response: Medications Can Treat Symptoms There is no known cure for Alzheimer's disease, but there are medicines that can treat symptoms of the disease. Most Alzheimers medicines work best for people in the mild or moderate stages of the disease. For example, they can keep memory loss from getting worse for a time. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Response: Research supported by the National Institutes of Health (NIH) and other organizations has expanded knowledge of brain function in healthy older people, identified ways that may lessen age-related cognitive decline, and deepened our understanding of Alzheimers. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Response: All types of people are needed to volunteer for Alzheimers research. People with Alzheimer's disease or MCI, those with a family history of Alzheimers, and healthy people with no memory problems and no family history of Alzheimers may be able to take part in clinical trials. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Alzheimers disease is a brain disease that slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks. It begins slowly and gets worse over time. Currently, it has no cure. Alzheimers disease is the most common cause of dementia in older people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Dementia is a loss of thinking, remembering, and reasoning skills that interferes with a persons daily life and activities. Alzheimers disease is the most common cause of dementia among older people. Dementia ranges in severity from the mild stage, when it is just beginning to affect a persons functioning, to the severe stage, when the person must depend completely on others for care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Mild cognitive impairment, or MCI, is a condition that can be an early sign of Alzheimers diseasebut not everyone with MCI will develop Alzheimers. People with MCI can still take care of themselves and do their normal activities. Signs of MCI may include - losing things often - forgetting to go to events and appointments - having more trouble coming up with words than other people the same age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Memory problems are typically one of the first signs of Alzheimers disease, though different people may have different initial symptoms. A decline in other aspects of thinking, such as finding the right words, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimers disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Alzheimer's disease has three stages: early (also called mild), middle (moderate), and late (severe). A person in the early stage of Alzheimers may - find it hard to remember things - ask the same questions over and over - get lost in familiar places - lose things or put them in odd places - have trouble handling money and paying bills - take longer than normal to finish daily tasks. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alzheimer's Disease ? ### Response: Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, which occurs in people between the ages of 30 and 60, a genetic mutation is usually the cause. Late-onset Alzheimers, which usually develops after age 60, arises from a complex series of brain changes that occur over decades. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alzheimer's Disease ? ### Response: The only definitive way to diagnose Alzheimer's disease is to find out whether plaques and tangles exist in brain tissue. To look at brain tissue, doctors perform a brain autopsy, an examination of the brain done after a person dies. Doctors can only make a diagnosis of ""possible"" or probable Alzheimers disease while a person is alive. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alzheimer's Disease ? ### Response: An early, accurate diagnosis of Alzheimer's disease helps people and their families plan for the future. It gives them time to discuss care options, find support, and make legal and financial arrangements while the person with Alzheimers can still take part in making decisions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alzheimer's Disease ? ### Response: An early, accurate diagnosis of Alzheimer's disease helps people and their families plan for the future. It gives them time to discuss care options, find support, and make legal and financial arrangements while the person with Alzheimers can still take part in making decisions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alzheimer's Disease ? ### Response: Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alzheimer's Disease ? ### Response: Currently, no medicines or treatments are known to prevent Alzheimer's disease, but scientists are studying many possibilities. These possibilities include lifestyle factors such as exercise and physical activity, a healthy diet, and mentally stimulating activities. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alzheimer's Disease ? ### Response: Research suggests that exercise may play a role in reducing risk for Alzheimers disease. Animal studies show that exercise increases both the number of small blood vessels that supply blood to the brain and the number of connections between nerve cells in older rats and mice. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alzheimer's Disease ? ### Response: A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. Researchers are looking at whether a healthy dietone that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugarcan help prevent Alzheimers. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alzheimer's Disease ? ### Response: Keeping the mind sharpthrough social engagement or intellectual stimulationis associated with a lower risk of Alzheimers disease. Activities like working, volunteering, reading, going to lectures, and playing computer and other games are being studied to see if they might help prevent Alzheimers. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Response: Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. An important goal of Alzheimers translational research is to increase the number and variety of potential new medicines and other interventions that are approved for testing in humans. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Response: Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or intervention in people to see if it is safe and effective. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alzheimer's Disease ? ### Response: People with Alzheimer's disease, those with mild cognitive impairment, those with a family history of Alzheimers, and healthy people with no memory problems who want to help scientists test new treatments may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain in healthy aging as well as what happens in Alzheimers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shingles ? ### Response: Shingles is a painful rash that develops on one side of the face or body. The rash forms blisters that typically scab over in 7 to 10 days and clear up within 2 to 4 weeks. Most commonly, the rash occurs in a single stripe around either the left or the right side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Shingles ? ### Response: Caused By A Virus Shingles is caused by a virus called varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores healed and the other symptoms went away, but the virus remained. It is with you for life. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Shingles ? ### Response: A Vaccine for Adults 60 and Older In May 2006, the U.S. Food and Drug Administration approved a vaccine (Zostavax) to prevent shingles in people age 60 and older. The vaccine is designed to boost the immune system and protect older adults from getting shingles later on. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Shingles ? ### Response: Burning, Itching, Tingling, Then a Rash An outbreak of shingles usually begins with a burning, itching, or tingling sensation on the back, chest, or around the rib cage or waist. It is also common for the face or eye area to be affected. (Watch the video to learn more about one woman's experience with shingles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shingles ? ### Response: If You Suspect Shingles If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash.Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shingles ? ### Response: Shingles -- also called varicella-zoster -- is a painful skin disease caused by a reactivation of the chickenpox virus. It is distinctive because it affects only one side of the body. The early signs of shingles usually develop in three stages: severe pain or tingling, possibly itchy rash, and blisters that look like chickenpox. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Shingles? ? ### Response: Shingles is very common. Fifty percent of all Americans will have had shingles by the time they are 80. While shingles occurs in people of all ages, it is most common in 60-to 80-year-olds. In fact, one out of every three people 60 years or older will get shingles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Shingles ? ### Response: The first symptoms usually include burning, itching, or tingling sensations on the back, chest, or around the rib cage or waist. In other cases, it can be the face or eye area that is involved. The affected area can become extremely painful. This is when most people go to a healthcare provider to find out what is causing the pain. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Shingles ? ### Response: A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Shingles ? ### Response: The most common complication of shingles is pain -- a condition called post-herpetic neuralgia (PHN). People with PHN have severe pain in the areas where they had the shingles rash, even after the rash clears up. In most patients, the pain usually clears up in a few weeks or months, but some people can have pain from PHN for years. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Shingles ? ### Response: Shingles is caused by a virus called the varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores and other symptoms healed, but the virus remained. It is with you for life. Researchers know that the varicella-zoster virus behaves differently from other viruses, such as the flu virus. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Shingles? ? ### Response: The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shingles ? ### Response: ""A burning, tingly feeling is what I noticed first,"" said an elderly woman describing her symptoms. ""I looked in the mirror, and there was a rash on just one side of my back. Then the shooting pains started. Days later, I could hardly stand to have my clothes touching me. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shingles ? ### Response: ""A burning, tingly feeling is what I noticed first,"" said an elderly woman describing her symptoms. ""I looked in the mirror, and there was a rash on just one side of my back. Then the shooting pains started. Days later, I could hardly stand to have my clothes touching me. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Shingles ? ### Response: Yes. In May 2006, the U.S. Food and Drug Administration approved a vaccine to prevent shingles in people age 60 and older. The vaccine, called Zostavax, is designed to boost the immune system and protect older adults from getting shingles later on. Even if you have had shingles, you can still get the shingles vaccine to help prevent future occurrences of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shingles ? ### Response: Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriasis ? ### Response: Psoriasis (sow RYE uh sis) is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Psoriasis ? ### Response: Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Psoriasis ? ### Response: Different forms of psoriasis have different symptoms. In many cases your doctor can diagnose psoriasis based on the signs seen in the physical exam as well as the symptoms you describe. Symptoms The most common symptoms of psoriasis are - patches of thick, red skin - skin inflammation - silvery scales - itching - pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: The goals of psoriasis treatment are to change the course of the disease by interfering with the increased production of skin cells, and to remove scales and smooth rough skin. There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: While many psoriasis treatments are applied directly to the skin, your doctor may prescribe others that must be taken by mouth or injected. There are also some natural treatments, taken by mouth or applied to the skin, that you can try on your own. Systemic Therapies These therapies, prescribed by your doctor, work in different ways to help control the underlying disease process. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Psoriasis ? ### Response: Scientists who are working to better understand and treat psoriasis are making headway in several different areas. The Role of T Cells Scientists believe that psoriasis occurs when white blood cells called T cells, which normally help fight infections, attack the bodys skin cells by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriasis ? ### Response: Psoriasis is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriasis ? ### Response: The most common form of psoriasis is called plaque psoriasis. It appears as raised red patches covered in silvery white scales. Plaque psoriasis usually shows up on the scalp, knees, elbows, and lower back. The patches may itch or be painful. They can also crack and bleed. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Psoriasis ? ### Response: Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Psoriasis ? ### Response: In most cases, your primary care doctor can diagnose psoriasis simply by examining your skin. If your doctor isn't sure if you have psoriasis, he or she may order a biopsy. This involves removing a small sample of skin and looking at it under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Psoriasis ? ### Response: In most cases, your primary care doctor can diagnose psoriasis simply by examining your skin. If your doctor isn't sure if you have psoriasis, he or she may order a biopsy. This involves removing a small sample of skin and looking at it under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. But there are other types of treatments you can buy without a prescription or try on your own. Some treatments for psoriasis are applied to the directly to the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: Topical treatments are those that are applied directly to the skin. Topical treatments for psoriasis include - salicylic acid, - steroid-based creams - calcipotriene-containing ointment - anthralin - coal-tar ointments and shampoos - and vitamin D analogues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: Topical treatments are those that are applied directly to the skin. Topical treatments for psoriasis include - salicylic acid, - steroid-based creams - calcipotriene-containing ointment - anthralin - coal-tar ointments and shampoos - and vitamin D analogues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: Topical treatments are those that are applied directly to the skin. Topical treatments for psoriasis include - salicylic acid, - steroid-based creams - calcipotriene-containing ointment - anthralin - coal-tar ointments and shampoos - and vitamin D analogues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Psoriasis ? ### Response: For many people, natural treatments can help relieve the symptoms of psoriasis. There are many natural treatments you can try on your own, but you should never use them to replace the treatment your doctor prescribes. Some natural treatments you may want to try are - sunlight - aloe - fish oil - Dead Sea salts - cayenne. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriasis ? ### Response: Having psoriasis may cause you to feel self-conscious, particularly if it affects a part of the body that others can see. Some people plan their clothing such as long skirts vs. knee-length or long-sleeve instead of short-sleeve shirts to hide affected skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriasis ? ### Response: Having psoriasis may cause you to feel self-conscious, particularly if it affects a part of the body that others can see. Some people plan their clothing such as long skirts vs. knee-length or long-sleeve instead of short-sleeve shirts to hide affected skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Attack ? ### Response: Blood Flow to the Heart Is Blocked The heart works 24 hours a day, pumping oxygen and nutrient-rich blood to the body. Blood is supplied to the heart through its coronary arteries. If a blood clot suddenly blocks a coronary artery, it cuts off most or all blood supply to the heart, and a heart attack results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Attack ? ### Response: Symptoms Can Vary Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies. The warning signs and symptoms of a heart attack aren't the same for everyone. Many heart attacks start slowly as mild pain or discomfort. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Attack ? ### Response: Most heart attacks are caused by a blood clot that blocks one of the coronary arteries, the blood vessels that bring blood and oxygen to the heart muscle. When blood cannot reach part of your heart, that area starves for oxygen. If the blockage continues long enough, cells in the affected area die. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Attack? ? ### Response: Lowering your risk factors for coronary heart disease (CHD) can help you prevent a heart attack. Even if you already have CHD or have already had a heart attack, you can still take steps to lower your risk. These steps involve following a heart healthy lifestyle and getting ongoing care for conditions that raise your risk. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Attack ? ### Response: If You Have Symptoms, Call 9-1-1 Diagnosis and treatment of a heart attack can begin when emergency personnel arrive after you call 9-1-1. Do not put off calling 9-1-1 because you are not sure that you are having a heart attack. Call within 5 minutes of the start of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Attack ? ### Response: Heart attacks are a leading killer of both men and women in the United States. The good news is that excellent treatments are available for heart attacks. These treatments can save lives and prevent disabilities. Heart attack treatment works best when it's given right after symptoms occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Attack ? ### Response: A heart attack occurs when the supply of blood and oxygen to an area of the heart muscle is blocked, usually by a blood clot in a coronary artery. If the blockage is not treated within a few hours, the heart muscle will be permanently damaged and replaced by scar tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Attack ? ### Response: Coronary heart disease, or CHD, is the most common underlying cause of a heart attack. Coronary arteries are the blood vessels that bring blood and oxygen to the heart muscle. Most heart attacks are caused by a blood clot that blocks one of the coronary arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Attack ? ### Response: Most heart attacks involve discomfort in the center of the chest that lasts more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. It can include pain or numbness in one or both arms, the back, neck, jaw, or stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Attack ? ### Response: Most heart attacks involve discomfort in the center of the chest that lasts more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. It can include pain or numbness in one or both arms, the back, neck, jaw, or stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Attack ? ### Response: Most heart attacks involve discomfort in the center of the chest that lasts more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. It can include pain or numbness in one or both arms, the back, neck, jaw, or stomach. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Attack? ? ### Response: Certain factors increase the risk of developing coronary heart disease and having a heart attack. These risk factors include some things you cannot change. You are at greater risk if you - are a man over age 45 or a woman over age 55. - have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Attack? ? ### Response: You can lower your risk of having a heart attack, even if you have already had a heart attack or have been told that your chances of having a heart attack are high. To prevent a heart attack, you will need to make lifestyle changes. You may also need to get treatment for conditions that raise your risk. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Attack ? ### Response: Several tests are used to diagnose a heart attack. - An electrocardiogram, also called an EKG, measures the rate and regularity of your heartbeat. - Blood tests identify and measure markers in the blood that can show how much damage was done to your heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Attack ? ### Response: If you are having a heart attack, doctors will work quickly to restore blood flow to the heart and continuously monitor vital signs to detect and treat complications. Restoring blood flow to the heart can prevent or limit damage to the heart muscle and help prevent another heart attack. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Attack ? ### Response: Angina is a recurring pain or discomfort in the chest that happens when some part of the heart does not receive enough blood. An episode of angina is not a heart attack. However, people with angina may have a hard time telling the difference between angina and heart attack symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Attack ? ### Response: There are many medicines that are used to treat a heart attack. - Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart. - Beta blockers decrease the workload on your heart by slowing your heart rate. - Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Attack ? ### Response: Having a heart attack increases your chances of having another one. Therefore, it is very important that you and your family know how and when to seek medical attention. Talk to your doctor about making an emergency action plan, and discuss it with your family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Attack ? ### Response: After a heart attack, many people worry about having another heart attack. They often feel depressed and may have trouble adjusting to a new lifestyle. You should discuss your feelings with your doctor. Your doctor can give you medication for anxiety or depression and may recommend professional counseling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Attack ? ### Response: After a heart attack, many people worry about having another heart attack. They often feel depressed and may have trouble adjusting to a new lifestyle. You should discuss your feelings with your doctor. Your doctor can give you medication for anxiety or depression and may recommend professional counseling. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Colorectal Cancer? ? ### Response: Scientists don't know exactly what causes colorectal cancer, but they have been able to identify some risk factors for the disease. A risk factor is anything that increases your chances of getting a disease. Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Colorectal Cancer ? ### Response: Most cancers in their early, most treatable stages don't cause any symptoms. That is why it is important to have regular tests to check for cancer even when you might not notice anything wrong. Common Signs and Symptoms When colorectal cancer first develops, there may be no symptoms at all. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Colorectal Cancer ? ### Response: There are several treatment options for colorectal cancer, although most treatments begin with surgical removal of either the cancerous polyp or section of the colon. The choice of treatment depends on your age and general health, the stage of cancer, whether or not it has spread beyond the colon, and other factors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Colorectal Cancer ? ### Response: Treatments are available for all patients who have colon cancer. The choice of treatment depends on the size, location, and stage of the cancer and on the patient's general health. Doctors may suggest several treatments or combinations of treatments. Surgery Is the Most Common First Step in a Treatment Regimen The three standard treatments for colon cancer are surgery, chemotherapy, and radiation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Parents, siblings, or children of a person who has had colorectal cancer are somewhat more likely to develop this type of cancer themselves. This is especially true if the relative had the cancer at a young age. If many family members have had colorectal cancer, the chances increase even more. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Colorectal Cancer ? ### Response: Possible signs of colorectal cancer include: - a change in the frequency of bowel movements - diarrhea, constipation, or feeling that the bowel does not empty completely - either bright red or very dark blood in the stool a change in the frequency of bo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Here are some of the tools used to detect colorectal cancer. - A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Yes. In July 2008, the U.S. Preventive Services Task Force made its strongest ever recommendation for colorectal cancer screening: it suggested that all adults between ages 50 and 75 get screened, or tested, for the disease. The task force noted that various screening tests are available, making it possible for patients and their clinicians to decide which test is best for each person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: The three standard treatments for colon cancer are surgery, chemotherapy, and radiation. Surgery, however, is the most common first step in the treatment for all stages of colon cancer. Surgery is an operation to remove the cancer. A doctor may remove the cancer using several types of surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Several types of surgery are available for someone with colorectal cancer. If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube up the rectum into the colon and cut the cancer out. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Colorectal Cancer ? ### Response: Even if the doctor removes all the cancer that can be seen at the time of the operation, many patients receive chemotherapy after surgery to kill any cancer cells that are left. Chemotherapy treatment after surgery -- to increase the chances of a cure -- is called adjuvant therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Colorectal Cancer ? ### Response: For surgery, the main side effects are short-term pain and tenderness around the area of the operation. For chemotherapy, the side effects depend on which drugs you take and what the dosages are. Most often the side effects include nausea, vomiting, and hair loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: Various drugs are under study as possible treatments for colorectal cancer. A 2005 study found that patients who took the drug AvastinTM with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but the evidence is mixed on whether or not Avastin can extend life. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Colorectal Cancer ? ### Response: Scientists have done research on chemoprevention -- the use of drugs to prevent cancer from developing in the first place. Most of these studies have looked at people with high risk for the disease (where it runs in families) and not in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Colorectal Cancer? ? ### Response: Researchers are working hard to understand and identify the genes involved in colorectal cancer. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoporosis ? ### Response: A Bone Disease Osteoporosis is a disease that thins and weakens the bones to the point that they become fragile and break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but any bone can be affected. You can't ""catch"" osteoporosis or give it to someone else. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Osteoporosis? ? ### Response: Risk Factors You Can't Change Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoporosis ? ### Response: Fractures -- A Possible Warning Sign Osteoporosis does not have any symptoms until a fracture occurs. Women and men with osteoporosis most often break bones in the hip, spine, and wrist. But any fracture in an older person could be a warning sign that the bone is weaker than optimal. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteoporosis ? ### Response: Who Should Be Tested? The United States Preventive Service Task Force recommends that women aged 65 and older be screened (tested) for osteoporosis, as well as women aged 60 and older who are at increased risk for an osteoporosis-related fracture. However, the decision of whether or not to have a bone density test is best made between a patient and his or her physician. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoporosis ? ### Response: Who Treats Osteoporosis? Although there is no cure for osteoporosis, it can be treated. If your doctor does not specialize in osteoporosis, he or she can refer you to a specialist. There is not one type of doctor who cares for people with osteoporosis. Many family doctors have been learning about osteoporosis and can treat people who have it. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Osteoporosis ? ### Response: Scientists are pursuing a wide range of basic and clinical studies on osteoporosis. Significant advances in preventing and treating osteoporosis continue to be made. Such advances are the direct result of research focused on - determining the causes and consequences of bone loss at the cellular and tissue levels - assessing risk factors - developing new strategies to maintain and even enhance bone density and reduce fracture risk - exploring the roles of such factors as genetics, hormones, calcium, vitamin D, drugs, and exercise on bone mass. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Osteoporosis? ? ### Response: Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Osteoporosis? ? ### Response: Here are risk factors for osteoporosis that you can control. - Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Osteoporosis? ? ### Response: If you have any of these red flags, you could be at high risk for weak bones. Talk to your doctor, nurse, pharmacist, or other health care professional. Do any of these apply to you? - ____ Im older than 65. - ____ Ive broken a bone after age 50. - ____ My close relative has osteoporosis or has broken a bone. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Osteoporosis? ? ### Response: If you have any of these red flags, you could be at high risk for weak bones. Talk to your doctor, nurse, pharmacist, or other health care professional. Do any of these apply to you? - ____ Im older than 65. - ____ Ive broken a bone after age 50. - ____ My close relative has osteoporosis or has broken a bone. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Osteoporosis ? ### Response: Preventing falls is a special concern for men and women with osteoporosis. Falls can increase the likelihood of fracturing a bone in the hip, wrist, spine, or other part of the skeleton. In addition to the environmental factors listed below, falls can also be caused by impaired vision or balance, chronic diseases that affect mental or physical functioning, and certain medications, such as sedatives and antidepressants. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoporosis ? ### Response: If you have osteoporosis, ask your doctor which activities are safe for you. If you have low bone mass, experts recommend that you protect your spine by avoiding exercises or activities that flex, bend, or twist it. Furthermore, you should avoid high-impact exercise to lower the risk of breaking a bone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoporosis ? ### Response: Osteoporosis does not have any symptoms until a fracture occurs. Some people may be unaware that they have already experienced one or more spine fractures. Height loss of one inch or more may be the first sign that someone has experienced spinal fractures due to osteoporosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteoporosis ? ### Response: Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoporosis ? ### Response: A comprehensive osteoporosis treatment program includes a focus on proper nutrition, exercise, and safety issues to prevent falls that may result in fractures. In addition, your doctor may prescribe a medication to slow or stop bone loss, increase bone density, and reduce fracture risk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteoporosis ? ### Response: Several medications are approved by the Food and Drug Administration for the treatment of osteoporosis. Since all medications have side effects, it is important to talk to your doctor about which medication is right for you. Bisphosphonates. Several bisphosphonates are approved for the prevention or treatment of osteoporosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoporosis ? ### Response: Millions of Americans are able to lead healthy, productive lives while living with osteoporosis. If you have been feeling symptoms of depressionsuch as loss of appetite, hopelessness, feeling useless and helpless, or having thoughts of suicidefor more than 2 weeks, consult a doctor, social worker, or therapist. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence ? ### Response: Urinary incontinence means a person leaks urine by accident. Urinary incontinence is a common bladder problem as people age. Women are more likely than men to leak urine. If this problem is happening to you, there is help. Urinary incontinence can often be controlled. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Incontinence ? ### Response: Why Does Urine Leak? The body stores urine in the bladder, which is a hollow organ, much like a balloon. During urination, muscles in the bladder tighten to move urine into a tube called the urethra. At the same time, the muscles around the urethra relax and let the urine pass out of the body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Incontinence ? ### Response: The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Incontinence ? ### Response: Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence ? ### Response: Urinary incontinence means a person leaks urine by accident. Urinary incontinence is a common bladder problem as people age. Women are more likely than men to leak urine. If this problem is happening to you, there is help. Urinary incontinence can often be controlled. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence ? ### Response: There are different types of urinary incontinence. Stress urinary incontinence happens when urine leaks as pressure is put on the bladder, for example, during exercise, coughing, sneezing, laughing, or lifting heavy objects. Its the most common type of bladder control problem in younger and middle-age women. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urinary Incontinence ? ### Response: Leaking urine can happen for many reasons. Sometimes urinary incontinence happens for a little while. Short periods of leaking urine can happen because of - urinary tract infections - constipation - some medicines. urinary tract infections constipation some medicines. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urinary Incontinence ? ### Response: The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Incontinence ? ### Response: Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urinary Incontinence ? ### Response: Even after treatment, some people still leak urine from time to time. There are products that can help you cope with leaking urine. These products may make leaking urine bother you a little less. - Pads. You can wear disposable pads in your underwear to absorb urine when it leaks and keep your clothes from getting wet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Stroke -- A Serious Event A stroke is serious, just like a heart attack. Each year in the United States, approximately 795,000 people have a stroke. About 610,000 of these are first or new strokes. On average, one American dies from stroke every four minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stroke ? ### Response: Know the Signs Knowing the warning signs of stroke and controlling stroke's risk factors can lower your risk of death or disability. If you suffer a stroke, you may not realize it at first. The people around you might not know it, either. Your family, friends, or neighbors may think you are unaware or confused. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Stroke? ? ### Response: A risk factor is a condition or behavior that increases your chances of getting a disease. Having a risk factor for stroke doesn't mean you'll have a stroke. On the other hand, not having a risk factor doesn't mean you'll avoid a stroke. But your risk of stroke grows as the number and severity of risk factors increase. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Stroke ? ### Response: Stroke is preventable and treatable. A better understanding of the causes of stroke has helped people make lifestyle changes that have cut the stroke death rate nearly in half in the last two decades. Preventing Stroke While family history of stroke plays a role in your risk, there are many risk factors you can control: - If you have high blood pressure, work with your doctor to get it under control. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Stroke ? ### Response: The National Institute of Neurological Disorders and Stroke sponsors a wide range of basic and clinical research aimed at finding better ways to prevent, diagnose, and treat stroke, and to restore functions lost as a result of stroke. Preventing Secondary Brain Damage Currently, scientists are studying the risk factors for stroke and the process of brain damage that results from stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Stroke? ? ### Response: Stroke occurs in all age groups, in both sexes, and in all races in every country. It can even occur before birth, when the fetus is still in the womb. Studies show the risk of stroke doubles for each decade between the ages of 55 and 85. However, a recent study found that stroke rates are on the rise for people under 55. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: There are two kinds of stroke. The most common kind of stroke is called ischemic stroke. It accounts for approximately 80 percent of all strokes. An ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind of stroke is called hemorrhagic stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Transient ischemic attacks, or TIAs, occur when the warning signs of stroke last only a few moments and then disappear. These brief episodes are also sometimes called ""mini-strokes."" Although brief, they identify an underlying serious condition that isn't going away without medical help. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Stroke? ? ### Response: A risk factor is a condition or behavior that increases your chances of getting a disease. Having a risk factor for stroke doesn't mean you'll have a stroke. On the other hand, not having a risk factor doesn't mean you'll avoid a stroke. But your risk of stroke grows as the number and severity of risk factors increase. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Stroke? ? ### Response: A risk factor is a condition or behavior that increases your chances of getting a disease. Having a risk factor for stroke doesn't mean you'll have a stroke. On the other hand, not having a risk factor doesn't mean you'll avoid a stroke. But your risk of stroke grows as the number and severity of risk factors increase. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Stroke ? ### Response: Yes. Stroke is preventable. A better understanding of the causes of stroke has helped people make lifestyle changes that have cut the stroke death rate nearly in half in the last two decades. While family history of stroke plays a role in your risk, there are many risk factors you can control: - If you have high blood pressure, work with your doctor to get it under control. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Stroke ? ### Response: Doctors have several techniques and imaging tools to help diagnose stroke quickly and accurately. The first step in diagnosis is a short neurological examination, or an evaluation of the nervous system. When a possible stroke patient arrives at a hospital, a health care professional, usually a doctor or nurse, will ask the patient or a companion what happened and when the symptoms began. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: One test that helps doctors judge the severity of a stroke is the standardized NIH Stroke Scale, developed by the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, or NIH. Health care professionals use the NIH Stroke Scale to measure a patient's neurological deficits by asking the patient to answer questions and to perform several physical and mental tests. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: The most commonly used imaging procedure is the computed tomography or CT scan, also known as a CAT scan. A CT scan is comprised of a series of cross-sectional images of the head and brain. Because it is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrhage prior to starting thrombolytic therapy, CT is the most widely used diagnostic imaging technique for acute stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Another imaging technique used for stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Another imaging technique used for stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stroke ? ### Response: Medication or drug therapy is the most common treatment for stroke. The most popular kinds of drugs to prevent or treat stroke are antithrombotics -- which include antiplatelet agents and anticoagulants -- and thrombolytics. Antithrombotics prevent the formation of blood clots that can become stuck in an artery of the brain and cause strokes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stroke ? ### Response: Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Stroke ? ### Response: The National Institute of Neurological Disorders and Stroke sponsors a wide range of basic and clinical research aimed at finding better ways to prevent, diagnose, and treat stroke, and to restore functions lost as a result of stroke. Currently, scientists are conducting stroke studies in animals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Brain plasticity is the brain's ability to learn and change, allowing it to adapt to deficits and injury and to take over the functions of damaged cells. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: Brain plasticity is the brain's ability to learn and change, allowing it to adapt to deficits and injury and to take over the functions of damaged cells. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Leukemia is a cancer of the blood cells. It is the most common type of blood cancer and affects 10 times as many adults as children. Most people diagnosed with leukemia are over 50 years old. Leukemia Starts in Bone Marrow Leukemia usually begins in the bone marrow, the soft material in the center of most bones where blood cells are formed. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Leukemia? ? ### Response: In many cases, no one knows why some people develop leukemia and others do not. However, scientists have identified some risk factors for the disease. A risk factor is anything that increases a person's chances of developing a disease. Most people who have known risk factors do not get leukemia, while many who do get the disease have none of these risk factors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukemia ? ### Response: During the early stages of leukemia, there may be no symptoms. Many of the symptoms of leukemia don't become apparent until a large number of normal blood cells are crowded out by leukemia cells. Symptoms of Chronic and Acute Leukemia In chronic leukemia, symptoms develop gradually and, in the beginning, are generally not as severe as in acute leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukemia ? ### Response: There are many treatment options for people with leukemia. The choice of treatment depends on your age and general health, the type of leukemia you have, whether or not it has spread outside the bone marrow, and other factors. If tests show that you have leukemia, you should talk with your doctor and make treatment decisions as soon as possible, although many patients with chronic lymphocytic leukemia do not require treatment for many years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukemia ? ### Response: Unlike other types of cancer, leukemia isn't a tumor that your doctor can surgically remove. Leukemia cells are produced in the bone marrow and travel throughout the body. The Goal of Treatment The goal of treatment for leukemia is to destroy the leukemia cells and allow normal cells to form in the bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Leukemia ? ### Response: Researchers are conducting clinical trials in many parts of the country. Clinical trials test an intervention such as a drug, therapy, medical device, or behavior in many people to see if it is safe and effective. Clinical trials already have led to advances, and researchers continue to search for more effective ways to treat and diagnose leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Cancer begins in cells, which make up the blood and other tissues. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process of creating a new cell goes wrong -- cells become abnormal and form more cells in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: There are four common types of leukemia. They are chronic lymphocytic leukemia, chronic myeloid leukemia, acute myeloid leukemia, and acute lymphocytic leukemia. Chronic lymphocytic leukemia, chronic myeloid leukemia, and acute myeloid leukemia are diagnosed more often in older adults. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Myeloma and lymphoma are other types of blood cancers. Both are common among older adults and occur more often in men than women. Myeloma affects plasma cells, a type of white blood cells typically found in the bone marrow. Lymphoma starts in the lymphatic system, which is part of the body's immune system. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Leukemia? ? ### Response: For the most part, no one knows why some people develop leukemia and others do not. Most people who have known risk factors do not get leukemia, while many who get the disease do not have any risk factors. Studies have identified the following risk factors for leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukemia ? ### Response: Common symptoms of leukemia may include - fevers - frequent infections - feeling weak or tired - headache - bleeding and bruising easily - pain in the bones or joints - swelling or discomfort in the abdomen (from an enlarged spleen) - swollen lymph nodes, especially in the neck or armpit - weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Leukemia ? ### Response: There are no standard or over-the-counter tests for leukemia. Your doctor can request lab analyses for leukemia that include blood tests that check the levels and types of blood cells and look for changes in the shape of blood cells. The doctor may also loo " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukemia ? ### Response: Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, where leukemia cells have collected in the body, and whether the leukemia has been treated before. Certain features of the leukemia cells and the patient's symptoms also may determine treatment options. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukemia ? ### Response: Standard treatments for leukemia include chemotherapy, biological therapy, radiation therapy, and immunotherapy. Some patients receive a combination of treatments. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Chemotherapy is a cancer treatment that uses drugs to kill cancer cells. This is the most common treatment for most types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Biological therapy is a treatment that uses a person's own immune system to fight leukemia. This therapy uses special substances to stimulate the immune system's ability to fight cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells and help the body kill them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Biological therapy is a treatment that uses a person's own immune system to fight leukemia. This therapy uses special substances to stimulate the immune system's ability to fight cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells and help the body kill them. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Leukemia ? ### Response: Clinical trials are research studies in which new treatments -- drugs, diagnostics, procedures, vaccines, and other therapies -- are tested in people to see if they are safe, effective, and better than the current standard of care. Clinical trials often compare a new treatment with a standard treatment to determine which one gives better results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukemia ? ### Response: Researchers are studying various drugs, immunotherapies, and other types of treatments. Because leukemia is a complicated disease, researchers are also studying the effectiveness of using combinations of treatments. Following are a few examples of some areas of current research. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hearing Loss ? ### Response: Causes of Hearing Loss Hearing loss happens for many reasons. Some people lose their hearing slowly as they age. This condition is called presbycusis. Doctors do not know why presbycusis happens, but it seems to run in families. Another cause is the ear infection otitis media, which can lead to long-term hearing loss if it is not treated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hearing Loss ? ### Response: Don't Ignore Hearing Problems Some people have a hearing problem without realizing it. Others might think they have a problem, but are too embarrassed to tell their doctor, friends, or family. You can help identify a possible hearing problem by asking yourself some key questions and, if necessary, having your hearing checked by a doctor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hearing Loss ? ### Response: Your doctor can recommend strategies to help reduce the effects of a hearing loss. Scientists are studying ways to develop new, more effective methods to treat and prevent hearing loss. Hearing Aids A hearing aid is a small electronic device that you wear in or behind your ear. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Hearing Loss ? ### Response: Approximately 17 percent, or 36 million, of American adults say that they have some degree of hearing loss. Hearing loss is a common condition in older adults. Roughly one-third of Americans 65 to 74 years of age and 47 percent of those 75 and older have hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hearing Loss ? ### Response: Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hearing Loss ? ### Response: Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hearing Loss ? ### Response: Washing your hands frequently can help prevent upper respiratory infections, which can lead to an ear infection called otitis media. The ear infection otitis media can be a cause of long-term hearing loss. Also, ask your doctor about a yearly flu shot to help prevent flu-related ear infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hearing Loss ? ### Response: Assistive Listening Devices Assistive listening devices devices can help you hear in certain listening environments. These can include telephone and cell phone amplifying devices, smart phone or tablet ""apps,"" and closed circuit systems (induction coil loops) in places of worship, theaters, and auditoriums. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hearing Loss ? ### Response: Researchers funded by the National Institutes of Health are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that you can hear certain sounds more clearly even when you are surrounded by background noise. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: A Brain Disorder Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It affects about half a million people in the United States although the numbers may be much higher. The average age of onset is 60 years, and the risk of developing Parkinson's goes up with age. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Parkinson's Disease ? ### Response: A Shortage of Dopamine Parkinson's disease occurs when nerve cells, or neurons, in an area of the brain that controls movement become impaired and/or die. Normally, these neurons produce an important brain chemical known as dopamine, but when the neurons die or become impaired, they produce less dopamine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parkinson's Disease ? ### Response: Parkinson's disease does not affect everyone the same way. Symptoms of the disorder and the rate of progression differ among people with the disease. Sometimes people dismiss early symptoms of Parkinson's as the effects of normal aging. There are no medical tests to definitively diagnose the disease, so it can be difficult to diagnose accurately. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parkinson's Disease ? ### Response: Deep Brain Stimulation Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Parkinson's Disease ? ### Response: In recent years, research on Parkinson's has advanced to the point that halting the progression of the disease, restoring lost function, and even preventing the disease are all considered realistic goals. While the goal of preventing Parkinson's disease may take years to achieve, researchers are making great progress in understanding and treating it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parkinson's Disease ? ### Response: Parkinson's belongs to a group of neurological conditions called movement disorders. The four main symptoms of Parkinson's disease are: - tremor, or trembling in hands, arms, legs, jaw, or head - rigidity, or stiffness of the limbs and trunk - bradykinesia, or slowness of movement - postural instability, or impaired balance. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Parkinson's Disease? ? ### Response: About 60,000 Americans are diagnosed with Parkinson's disease each year. The disease strikes about 50 percent more men than women. The average age of onset is 60 years, and the risk of developing the disease increases with age. Parkinson's disease is also more common in developed countries, possibly because of increased exposure to pesticides or other environmental toxins. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Parkinson's Disease ? ### Response: Parkinson's disease occurs when nerve cells, or neurons, in an area of the brain that controls movement die or become impaired. Normally, these neurons produce an important brain chemical known as dopamine, but once the neurons become impaired, they produce less dopamine and eventually die. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Dopamine is a brain chemical messenger, or neurotransmitter. It is responsible for transmitting signals between a brain region called the substantia nigra and multiple brain regions. The connection between the substantia nigra and the corpus striatum is critical to produce smooth, purposeful movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Lewy bodies are unusual deposits or clumps of the brain protein alpha-synuclein, along with other proteins, which are seen upon microscopic examination of the brain. Many brain cells of people with Parkinson's disease contain Lewy bodies. Researchers do not yet know why Lewy bodies form or what role they play in the development of Parkinson's disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parkinson's Disease ? ### Response: There are currently no blood or laboratory tests to diagnose sporadic Parkinson's disease. Diagnosis is based on a person's medical history and a neurological examination, but the disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: The main therapy for Parkinson's disease is the drug levodopa, also called L-dopa. It is a simple chemical found naturally in plants and animals. Nerve cells use levodopa to make dopamine to replenish the brain's supply. Levodopa helps to reduce tremors and other symptoms of Parkinson's disease during the early stages of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Carbidopa is a drug that is usually given along with levodopa. It delays the body's conversion of levodopa into dopamine until the levodopa reaches the brain. This prevents or reduces some of the side effects that often accompany levodopa therapy. Carbidopa also reduces the amount of levodopa needed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parkinson's Disease ? ### Response: Yes. Other medications available to treat some symptoms and stages of Parkinson's disease include direct dopamine agonists, MAO-B inhibitors, COMT inhibitors, an anti-viral drug, and anticholinergics. Direct dopamine agonists are drugs that mimic the role of dopamine in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parkinson's Disease ? ### Response: Doctors may prescribe a variety of medications to treat the non-motor symptoms of Parkinson's disease, such as depression and anxiety. Hallucinations, delusions, and other psychotic symptoms may be caused by some drugs prescribed for Parkinson's. Therefore, reducing or stopping those Parkinson's medications may make these symptoms of psychosis go away. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Parkinson's Disease ? ### Response: Genetics is one of the most exciting areas of Parkinson's disease research. Studying the genes responsible for inherited cases can help researchers understand both inherited and sporadic cases of the disease. Sporadic means the disease occurs randomly and does not seem to run in families. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: The Parkinsons Disease Biomarkers Identification Network, or PD-BIN, is an initiative developed by the National Institute of Neurological Disorders and Stroke to discover and validate biomarkers for Parkinsons disease. Biomarkers are measurable characteristics that can reveal whether the disease is developing or progressing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: The National Institute of Neurological Disorders and Stroke (NINDS) has launched a broad effort called NIH Exploratory Trials in Parkinson's Disease, or NET-PD, to find drugs to slow the progression of Parkinson's disease. The first studies tested several compounds. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Smell ? ### Response: Our sense of smell helps us enjoy life. We delight in the aromas of our favorite foods or the fragrance of flowers. Our sense of smell also is a warning system, alerting us to danger signals such as a gas leak, spoiled food, or a fire. Any loss in our sense of smell can have a negative effect on our quality of life. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Problems with Smell ? ### Response: Problems with smell happen for many reasons, some clearer than others. Loss of smell may be permanent or temporary, depending on the cause. Effects of Aging As with vision and hearing, people gradually lose their ability to smell as they get older. Smell that declines with age is called presbyosmia and is not preventable. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Problems with Smell ? ### Response: A Reduced Sense of Smell There are several types of smell disorders depending on how the sense of smell is affected. People who have smell disorders experience either a loss in their ability to smell or changes in the way they perceive odors. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Problems with Smell ? ### Response: Relief is Possible Although there is no treatment for presbyosmia -- loss of smell due to aging -- relief from smell disorders is possible for many older people. Depending on the cause of your problem with smell, your doctor may be able to treat it or suggest ways to cope with it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Smell ? ### Response: Smell is part of our chemical sensing system. Our sense of smell is the ability to detect odors in our environment through our nose, like the fragrance of flowers or the smell of baking bread. Smell is also the ability to detect food odors or aromas released in our mouths when we chew, which then flow from the roof of the throat region to the nose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Problems with Smell ? ### Response: People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. There are several types of smell disorders depending on how the sense of smell is affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Problems with Smell ? ### Response: Problems with smell that occur with aging are not preventable. However, you can protect yourself against other causes of smell loss with these steps. - Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Problems with Smell ? ### Response: In rare cases, certain medicines such as antibiotics or antihistamines may cause a change in your ability to smell. If you are taking these medications and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Problems with Smell ? ### Response: Scientists have developed tests to determine the nature and extent of a person's smell disorder. Tests measure the smallest amount of odor patients can detect as well as how accurately a person can identify different smells. An easily administered ""scratch and sniff"" test allows a person to scratch pieces of paper treated to release different odors, sniff them, and try to identify each odor from a list of possibilities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Problems with Smell ? ### Response: Depending on the cause of your smell disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the disorder, ask your doctor if you could substitute other medications or reduce the dose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Problems with Smell ? ### Response: You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of the " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Problems with Smell ? ### Response: The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Surviving Cancer ? ### Response: Older adults are more likely to have chronic health conditions such as diabetes and heart disease. Managing these conditions can complicate treatment and affect the time it takes to recover. Also, older people's bodies metabolize, or break down, drugs at a slower rate than younger people, and this can have an effect on the way medicines are tolerated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Surviving Cancer ? ### Response: Follow-up cancer care involves regular medical checkups that include a review of your medical history and a physical exam. Follow-up care may include blood work and other lab tests and procedures that allow the doctor to examine or take pictures of areas inside the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Surviving Cancer ? ### Response: It is important to keep a copy of your medical records to share with any new doctors that you see. This information should contain the type of cancer you were diagnosed with, test results, and treatment details. It is also essential to include information about any medical conditions, medications and supplements you take, and the doctors that you are seeing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Surviving Cancer ? ### Response: Fatigue, or feeling extremely tired, is a common complaint during the first year after cancer treatment ends. Many factors may contribute to treatment-related fatigue, including cancer therapy or other problems such as stress, poor nutrition, and depression. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Surviving Cancer ? ### Response: Most people first notice symptoms, such as tingling or numbness, in their hands or feet. Other common symptoms include sudden or sharp pain sensations, loss of sensation of touch, loss of balance or difficulty walking, trouble picking up objects or buttoning clothes, and being more -- or less -- sensitive to heat and cold. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Surviving Cancer ? ### Response: Talk to your doctor when you first notice symptoms of neuropathy. Certain medications and other approaches, such as physical therapy, may help alleviate symptoms. There are some steps you can take yourself. Pay careful attention to your hands and feet, and check them for wounds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Surviving Cancer ? ### Response: You can try several things that might help prevent or relieve lymphedema. - Watch for signs of swelling or infection (redness, pain, heat, and fever). Tell your health care provider if your arm or leg is painful or swollen. - Avoid getting cuts, insect bites, or sunburn in the affected area. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Surviving Cancer ? ### Response: Many cancer survivors develop problems with their mouth or teeth. Radiation or surgery to the head and neck can cause problems with your teeth and gums, the lining of your mouth, and the glands that make saliva. Certain types of chemotherapy can cause the same problems as well as dry mouth, cavities, and a change in the sense of taste. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Surviving Cancer ? ### Response: Certain kinds of chemotherapy and medicines contribute to weight gain. Unfortunately, the usual ways people try to lose weight may not work. Ask your doctor about talking with a nutritionist who can help you plan a healthy diet, and about doing exercises that can help you regain muscle tone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Surviving Cancer ? ### Response: Bladder and bowel problems are among the most upsetting issues people face after cancer treatment. People often feel ashamed or fearful to go out in public, because they worry about having an ""accident."" This loss of control can happen after treatment for bladder, prostate, colon, rectal, ovarian, or other gynecologic or abdominal cancers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Surviving Cancer ? ### Response: For many older adults, intimacy remains an important need. Cancer and cancer treatment can have a major impact on intimacy and sexual functions for both men and women. Problems are often caused by physical changes, such as erectile dysfunction or incontinence which can occur after prostate surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Surviving Cancer ? ### Response: Some signs that may indicate you need professional help for depression include - feelings of worry, sadness, and hopelessness that don't go away - feeling overwhelmed or out of control for long periods of time - crying for a long time or many times a day - thinking about hurting or killing yourself - loss of interest in usual activities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Surviving Cancer ? ### Response: The National Cancer Institute's Cancer Information Service (CIS) provides personalized answers to questions about many aspects of cancer, including symptoms, diagnosis, treatment, and survivorship issues. Contact CIS by calling 1-800-4-CANCER (1-800-422-6237) or for TTY users, 1-800-332-8615. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alzheimer's Caregiving ? ### Response: Now that your family member or friend has received a diagnosis of Alzheimers disease, its important to learn as much as you can about the disease and how to care for someone who has it. You may also want to know the right way to share the news with family and friends. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Alzheimer's Caregiving ? ### Response: Most people with Alzheimers disease are cared for at home by family members. Within families, caregiving is provided most often by wives and husbands, followed by daughters. As Alzheimers disease gets worse, the person will need more and more care. Because of this, you will need more help. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Caregiving ? ### Response: Alzheimers disease is an illness of the brain. It causes large numbers of nerve cells in the brain to die. This affects a persons ability to remember things and think clearly. People with Alzheimers become forgetful and easily confused and may have a hard time concentrating. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Caregiving ? ### Response: Alzheimers disease has three stages: early (also called mild), middle (moderate), and late (severe). Understanding these stages can help you care for your loved one and plan ahead. A person in the early stage of Alzheimers disease may find it hard to remember things, ask the same questions over and over, lose things, or have trouble handling money and paying bills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Caregiving ? ### Response: Here are some ways you can learn more about Alzheimers disease. - Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. - Check out books or videos about Alzheimers from the library. - Go to educational programs about the disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alzheimer's Caregiving ? ### Response: When you learn that someone has Alzheimers disease, you may wonder when and how to tell your family and friends. You may be worried about how others will react to or treat the person. Others often sense that something is wrong before they are told. Alzheimers disease is hard to keep secret. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Caregiving ? ### Response: Eating healthy foods helps us stay well. It's even more important for people with Alzheimers disease. When a person with Alzheimer's lives with you -- - Buy healthy foods such as vegetables, fruits, and whole-grain products. Be sure to buy foods that the person likes and can eat. " "Below is an instruction from Human. Write a response. ### Instruction: What to do for Alzheimer's Caregiving ? ### Response: As Alzheimers disease gets worse, you will need more help to care for the person. It's okay to seek help whenever you need it. Several kinds of help are available. - Home health care agencies send a home health aide or nurse to your home to help you care for a person with Alzheimers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Caregiving ? ### Response: Everyone needs help at times. However, many caregivers find it hard to ask for help. They may feel they should be able to do everything themselves, or that it's not all right to leave the person in their care with someone else. Or maybe they cant afford to pay someone to watch the person for an hour or two. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paget's Disease of Bone ? ### Response: Enlarged and Misshapen Bones Paget's disease of bone causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paget's Disease of Bone ? ### Response: Symptoms Many people don't know they have Paget's disease because they have a mild case of the disease and do not have any symptoms. However, people with more advanced cases of the disease will likely have symptoms. Symptoms vary depending on which bone or bones are affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Paget's Disease of Bone ? ### Response: An Underdiagnosed Disease Experts believe that Paget's disease is underdiagnosed; people with a mild case and no symptoms may never know they have the disease. Or, they may receive a diagnosis by accident when x-rays or other laboratory tests done for another reason reveal Paget's disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paget's Disease of Bone ? ### Response: Early Diagnosis is Important Although there is no cure for Paget's disease of bone, it is treatable. Treatment is most effective when the disease is diagnosed early, before it causes major changes in the affected bones. The goal of treatment is to relieve bone pain and prevent the disease from progressing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paget's Disease of Bone ? ### Response: Paget's disease of bone is a disease that causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paget's Disease of Bone ? ### Response: Paget's disease of bone is a disease that causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the complications of Paget's Disease of Bone ? ### Response: Over time, Paget's disease may lead to other medical conditions, including arthritis, headaches, hearing loss, and nervous system problems, depending on which bones are affected. On very rare occasions, Paget's disease is associated with the development of osteosarcoma, a type of bone cancer. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Paget's Disease of Bone ? ### Response: Paget's disease is almost always diagnosed by x-ray, although it may be discovered using one of two other tests: an alkaline phosphatase blood test or a bone scan. Paget's disease is often found by accident when a person undergoes one of these tests for another reason. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paget's Disease of Bone ? ### Response: The Food and Drug Administration has approved several medications that can stop or slow down the progression of the disease and reduce pain and other symptoms. These medications fall into two categories: bisphosphonates and calcitonin. Doctors most often prescribe one of the four strongest bisphosphonates, which are risedronate, alendronate, pamidronate, and zoledronic acid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paget's Disease of Bone ? ### Response: Yes. Some complications from Paget's disease respond well to surgery. Joint replacement may be helpful in people with severe arthritis of the hip or knee. Surgery can also realign affected leg bones to reduce pain or help broken bones heal in a better position. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Skin cancer is the most common type of cancer in the U.S. It occurs in more than a million people each year, including many older people. There are three main types of skin cancer: basal cell carcinoma, squamous cell carcinoma, and melanoma. Of the three, melanoma is the most serious. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Skin Cancer ? ### Response: Scientists have been able to identify the causes and risk factors for skin cancer. A risk factor is anything that increases your chances of getting a disease. DNA Damage One of the main reasons that skin cancer develops is because DNA is damaged. DNA is the master molecule that controls and directs every cell in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Skin Cancer ? ### Response: Early Detection is Important When skin cancer is found early, it is more likely to be treated successfully. Therefore, it is important to know how to recognize the signs of skin cancer in order to improve the chances of early diagnosis. Most non-melanoma skin cancers (basal cell carcinoma and squamous cell carcinoma) can be cured if found and treated early. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Skin Cancer ? ### Response: What Happens During Screening? Checking for cancer in a person who does not have any symptoms is called screening. Screening can help diagnose skin problems before they have a chance to become cancerous. A doctor, usually a dermatologist, screens for skin cancer by performing a total-body skin examination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Skin Cancer ? ### Response: Many Treatment Options There are many treatment options for people with melanoma and non-melanoma skin cancer. The choice of treatment depends on your age and general health, the site of the cancer, the stage of the cancer, whether or not it has spread beyond the original site, and other factors. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Skin Cancer ? ### Response: Many Areas of Research Scientists are constantly searching for new ways to detect skin cancer, assess risk, and predict patient outcomes. They are interested in finding new treatments and new ways to deliver drugs and radiation. As scientists get a better understanding of what causes skin cancer and what genetic and environmental factors play a role, they should be able to design new drugs to hinder the development of cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Skin cancer occurs when cancer cells form in the tissues of the skin. The skin is mainly made up of two layers: the inner layer, called the dermis, and the outer layer, called the epidermis. Within the epidermis, there are three types of cells; squamous cells, basal cells, and melanocytes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Basal cell carcinoma develops in the basal cells of the epidermis, the outer layer of the skin. It is the most common type of skin cancer in the United States, but it spreads slowly and is rarely life-threatening. Basal cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Squamous cell carcinoma develops in the squamous cells of the epidermis, the outer layer of the skin. It is much less common than basal cell carcinoma and is rarely life-threatening. Squamous cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Squamous cell carcinoma develops in the squamous cells of the epidermis, the outer layer of the skin. It is much less common than basal cell carcinoma and is rarely life-threatening. Squamous cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: When the cancer spreads from its original tumor location in the skin to another part of the body such as the brain, it is called metastatic skin cancer. It is not the same as a cancer that started in the brain (brain cancer). Doctors sometimes call this ""distant"" disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Skin Cancer? ? ### Response: The best way to reduce your skin cancer risk is to reduce your exposure to ultraviolet (UV) rays from the sun. To do this, you can avoid outdoor activities during midday, when the sun's rays are strongest, or wear protective clothing, such as a wide-brimmed hat, long-sleeved shirt, and pants. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: SPF is a sun protection rating. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Skin Cancer ? ### Response: Skin cancer is usually visible. Changes in your skin, such as lumps, scabs, red spots, rough patches, or new or irregular moles should be reported to your doctor. You should also see a doctor if you have a mole, birthmark, or other pigmented area of skin that can be classified by the ABCDE symptom system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Once cancer has been found, the doctor will need to determine the extent, or stage, of the cancer. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps you and the doctor plan treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Skin Cancer ? ### Response: Different types of treatment are available for patients with skin cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Four types of standard treatment are used: surgery, radiation therapy, chemotherapy, photodynamic therapy, and immunotherapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Skin Cancer ? ### Response: Yes. Some skin cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Clinical trials are research studies with people to find out whether a new drug, therapy, or treatment is both safe and effective. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Skin Cancer ? ### Response: The National Cancer Institute has developed a comprehensive online cancer database called the Physician Data Query (PDQ) to present evidence from the most recent research on melanoma and other skin cancers. Click here to see the PDQ. A window will open. Click the ""x"" in the upper right hand corner of the ""PDQ"" window to return here. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gum (Periodontal) Disease ? ### Response: An Infection of the Gums and Surrounding Tissues Gum (periodontal) disease is an infection of the gums and surrounding tissues that hold teeth in place. The two forms of gum disease are gingivitis, a mild form that is reversible with good oral hygiene, and periodontitis, a more severe form that can damage the soft tissues and bone that support teeth. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Gum (Periodontal) Disease ? ### Response: Risk Factors There are a number of risk factors that can increase your chances of developing periodontal disease. - Smoking is one of the most significant risk factors associated with the development of gum disease. Smoking can also lower the chances for successful treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gum (Periodontal) Disease ? ### Response: Controlling the Infection The main goal of treatment is to control the infection. The number and types of treatment will vary, depending on how far the disease has advanced. Any type of treatment requires the patient to keep up good daily care at home. The doctor may also suggest changing certain behaviors, such as quitting smoking, as a way to improve treatment outcome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gum (Periodontal) Disease ? ### Response: Gum disease is an infection of the tissues that hold your teeth in place. In its early stages, it is usually painless, and many people are not aware that they have it. But in more advanced stages, gum disease can lead to sore or bleeding gums, painful chewing problems, and even tooth loss. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gum (Periodontal) Disease ? ### Response: Gum disease is caused by dental plaque -- a sticky film of bacteria that builds up on teeth. Regular brushing and flossing help get rid of plaque. But plaque that is not removed can harden and form tartar that brushing doesn't clean. Only a professional cleaning by a dentist or dental hygienist can remove tartar. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gum (Periodontal) Disease ? ### Response: Gingivitis is inflammation of the gums. In gingivitis, the gums become red, swollen and can bleed easily. Gingivitis is a mild form of gum disease. It can usually be reversed with daily brushing and flossing, and regular cleaning by a dentist or dental hygienist. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gum (Periodontal) Disease ? ### Response: When gingivitis is not treated, it can advance to periodontitis (which means ""inflammation around the tooth."") In periodontitis, gums pull away from the teeth and form ""pockets"" that become infected. The body's immune system fights the bacteria as the plaque spreads and grows below the gum line. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gum (Periodontal) Disease ? ### Response: When gingivitis is not treated, it can advance to periodontitis (which means ""inflammation around the tooth."") In periodontitis, gums pull away from the teeth and form ""pockets"" that become infected. The body's immune system fights the bacteria as the plaque spreads and grows below the gum line. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gum (Periodontal) Disease ? ### Response: In some studies, researchers have observed that people with periodontal disease (when compared to people without periodontal disease) were more likely to develop heart disease or have difficulty controlling their blood sugar. But so far, it has not been determined whether periodontal disease is the cause of these conditions. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Gum (Periodontal) Disease? ? ### Response: There are a number of risk factors that can increase your chances of developing periodontal disease. - Smoking is one of the most significant risk factors associated with the development of gum disease and can even lower the chances for successful treatment. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Gum (Periodontal) Disease ? ### Response: Yes, you can prevent gum disease with proper dental hygiene and regular cleanings by your dentist or dental hygienist. Specifically, you should - brush your teeth twice a day (with a fluoride toothpaste). - floss regularly to remove plaque from between teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gum (Periodontal) Disease ? ### Response: If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. Make the toothbrush easier to hold. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gum (Periodontal) Disease ? ### Response: The dentist will ask about your medical history to identify any conditions or risk factors such as smoking that may contribute to gum disease. The dentist or hygienist will also - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gum (Periodontal) Disease ? ### Response: The dentist will ask about your medical history to identify any conditions or risk factors such as smoking that may contribute to gum disease. The dentist or hygienist will also - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gum (Periodontal) Disease ? ### Response: In deep cleaning, the dentist, periodontist, or dental hygienist removes the plaque through a method called scaling and root planing. Scaling means scraping off the tartar from above and below the gum line. Root planing gets rid of rough spots on the tooth root where the germs gather, and helps remove bacteria that contribute to the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gum (Periodontal) Disease ? ### Response: Medications may be used with treatment that includes scaling and root planing. Depending on how far the disease has progressed, the dentist or periodontist may also suggest surgical treatment. Long-term studies are needed to find out if using medications reduces the need for surgery and whether they are effective over a long period of time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gum (Periodontal) Disease ? ### Response: Surgery might be necessary if inflammation and deep pockets remain following treatment with deep cleaning and medications. A periodontist may perform flap surgery to remove tartar deposits in deep pockets or to reduce the periodontal pocket and make it easier for the patient, dentist, and hygienist to keep the area clean. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Balance Problems ? ### Response: Have you ever felt dizzy, lightheaded, or as if the room were spinning around you? These can be very troublesome sensations. If the feeling happens often, it could be a sign of a balance problem. Balance problems are among the most common reasons that older adults seek help from a doctor. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Balance Problems ? ### Response: People are more likely to have problems with balance as they get older. But age is not the only reason these problems occur; there are other causes, too. In some cases, you can help reduce your risk for certain balance problems. Problems in the Inner Ear Some balance disorders are caused by problems in the inner ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Balance Problems ? ### Response: Some people may have a balance problem without realizing it. Others might think they have a problem, but are too embarrassed to tell their doctor, friends, or family. Here are common symtoms experienced by people with a balance disorder. Symptoms If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Balance Problems ? ### Response: Your doctor can recommend strategies to help reduce the effects of a balance disorder. Scientists are studying ways to develop new, more effective methods to treat and prevent balance disorders. Balance disorders can be signs of other health problems, such as an ear infection, stroke, or multiple sclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Balance Problems ? ### Response: A balance disorder is a disturbance of the body systems controlling balance. This disturbance can make people feel dizzy, unsteady, or as if they were spinning. Balance disorders are a common cause of falls and fall-related injuries, such as hip fractures. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Balance Problems ? ### Response: In 2008, an estimated 14.8 percent of American adults (33.4 million) had a balance or dizziness problem during the past year. See statistics about the frequency of balance and other sensory impairments in older adults. (Centers for Disease Control and Prev " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Balance Problems ? ### Response: If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as - dizziness or vertigo (a spinning sensation) - falling or feeling as if you are going to fall - lightheadedness, faintness, or a floating sensation - blurred vision - confusion or disorientation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Balance Problems ? ### Response: There are many types of balance disorders. Three of the most common are BPPV (benign paroxysmal positional vertigo), labyrinthitis, and Menieres disease. BPPV (benign paroxysmal positional vertigo) is one of the most common balance disorders among older adults. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Balance Problems ? ### Response: Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Balance Problems ? ### Response: Yes. Many prescription medications, such as those used to lower blood pressure, can make a person feel dizzy. Other medicines might damage the inner ear. These medicines, called ototoxic medicines, can make you feel off balance. Sometimes the damage lasts only as long as you take the drug. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Balance Problems ? ### Response: An ear infection called otitis media can cause balance problems. Otitis media is most common in children, but adults can get it, too. You can help prevent otitis media by washing your hands frequently. Also, talk to your doctor about getting a yearly flu shot to stave off flu-related ear infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Balance Problems ? ### Response: In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn more about causes and treatments for BPPV. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Balance Problems ? ### Response: Mnire's disease is caused by changes in fluid volumes in the inner ear. People with Mnire's disease can help reduce its dizzying effects by lowering the amount of salt (sodium) in their diets. Limiting alcohol or caffeine also may be helpful. Some medications, such as corticosteroids or the antibiotic gentamicin, also are used to treat Mnire's disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Balance Problems ? ### Response: Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anxiety Disorders ? ### Response: Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anxiety Disorders ? ### Response: Excessive, Irrational Fear Each anxiety disorder has different symptoms, but all the symptoms cluster around excessive, irrational fear and dread. Unlike the relatively mild, brief anxiety caused by a specific event (such as speaking in public or a first date), severe anxiety that lasts at least six months is generally considered to be problem that might benefit from evaluation and treatment. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anxiety Disorders ? ### Response: Anxiety disorders sometimes run in families, but no one knows for sure why some people have them while others don't. Anxiety disorders are more common among younger adults than older adults, and they typically start in early life. However, anyone can develop an anxiety disorder at any time. " "Below is an instruction from Human. Write a response. ### Instruction: what research (or clinical trials) is being done for Anxiety Disorders ? ### Response: Clinical trials are part of clinical research and at the heart of all treatment advances. Clinical trials look at new ways to prevent, detect, or treat disease. The National Institute of Mental Health at NIH supports research studies on mental health and disorders. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Anxiety Disorders ? ### Response: Studies estimate that anxiety disorders affect around 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Anxiety Disorders ? ### Response: Studies estimate that anxiety disorders affect around 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anxiety Disorders ? ### Response: All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anxiety Disorders ? ### Response: In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anxiety Disorders ? ### Response: In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Anxiety Disorders? ? ### Response: Generalized anxiety disorder (GAD) affects about 6.8 million American adults, including twice as many women as men. The disorder develops gradually and can begin at any point in the life cycle, although the years of highest risk are between childhood and middle age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Anxiety Disorders ? ### Response: Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you dont have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center that charges people according to how much they are able to pay. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anxiety Disorders ? ### Response: Cognitive behavioral therapy (CBT) is a type of psychotherapy that is very useful in treating anxiety disorders. It can help people change the thinking patterns that support their fears and change the way they react to anxiety-provoking situations. For example, cognitive behavioral therapy can help people with panic disorder learn that their panic attacks are not really heart attacks and help people with social phobia learn how to overcome the belief that others are always watching and judging them. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Anxiety Disorders ? ### Response: Exposure-based treatment has been used for many years to treat specific phobias. The person gradually encounters the object or situation that is feared, perhaps at first only through pictures or tapes, then later face-to-face. Sometimes the therapist will accompany the person to a feared situation to provide support and guidance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Restless Legs Syndrome ? ### Response: Restless legs syndrome (RLS) is a disorder that causes a strong urge to move your legs. This urge to move often occurs with strange and unpleasant feelings in your legs. Moving your legs relieves the urge and the unpleasant feelings. People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Restless Legs Syndrome ? ### Response: Faulty Use of Iron or Lack of Iron Research suggests that the main cause of restless legs syndrome (RLS) is a faulty use of iron or a lack of iron in the brain. The brain uses iron to make the chemical dopamine (DO-pah-meen) and to control other brain activities. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Restless Legs Syndrome? ? ### Response: Restless legs syndrome (RLS) affects about 515 percent of Americans. Many people who have RLS have family members with the disorder. RLS can affect people of any racial or ethnic group, but the disorder is more common in people of Northern European descent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Restless Legs Syndrome ? ### Response: The four key signs of restless legs syndrome (RLS) are: A strong urge to move your legs. This urge often, but not always, occurs with unpleasant feelings in your legs. When the disorder is severe, you also may have the urge to move your arms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Restless Legs Syndrome ? ### Response: Your doctor will diagnose restless legs syndrome (RLS) based on your signs and symptoms, your medical and family histories, a physical exam, and test results. Your doctor will use this information to rule out other conditions that have symptoms similar to those of RLS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Restless Legs Syndrome ? ### Response: Restless legs syndrome (RLS) has no cure. If a condition or medicine triggers RLS, it may go away or get better if the trigger is relieved or stopped. RLS can be treated. The goals of treatment are to: Prevent or relieve symptoms " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Respiratory Distress Syndrome ? ### Response: Respiratory distress syndrome (RDS) is a breathing disorder that affects newborns. RDS rarely occurs in full-term infants. The disorder is more common in premature infants born about 6 weeks or more before their due dates. RDS is more common in premature infants because their lungs aren't able to make enough surfactant (sur-FAK-tant). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Respiratory Distress Syndrome ? ### Response: The main cause of respiratory distress syndrome (RDS) is a lack of surfactant in the lungs. Surfactant is a liquid that coats the inside of the lungs. A fetus's lungs start making surfactant during the third trimester of pregnancy (weeks 26 through labor and delivery). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Respiratory Distress Syndrome? ? ### Response: Certain factors may increase the risk that your infant will have respiratory distress syndrome (RDS). These factors include: Premature delivery. The earlier your baby is born, the greater his or her risk for RDS. Most cases of RDS occur in babies born before 28 weeks of pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Respiratory Distress Syndrome ? ### Response: Signs and symptoms of respiratory distress syndrome (RDS) usually occur at birth or within the first few hours that follow. They include: Rapid, shallow breathing Sharp pulling in of the chest below and between the ribs with each breath " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Respiratory Distress Syndrome ? ### Response: Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born. Doctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Respiratory Distress Syndrome ? ### Response: Treatment for respiratory distress syndrome (RDS) usually begins as soon as an infant is born, sometimes in the delivery room. Most infants who show signs of RDS are quickly moved to a neonatal intensive care unit (NICU). There they receive around-the-clock treatment from health care professionals who specialize in treating premature infants. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Respiratory Distress Syndrome ? ### Response: Taking steps to ensure a healthy pregnancy might prevent your infant from being born before his or her lungs have fully developed. These steps include: Seeing your doctor regularly during your pregnancy Following a healthy diet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tetralogy of Fallot ? ### Response: Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart's structure that's present at birth. Congenital heart defects change the normal flow of blood through the heart. Tetralogy of Fallot is a rare, complex heart defect. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tetralogy of Fallot ? ### Response: Doctors often don't know what causes tetralogy of Fallot and other congenital heart defects. Some conditions or factors that occur during pregnancy may raise your risk of having a child who has tetralogy of Fallot. These conditions and factors include: " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetralogy of Fallot ? ### Response: Cyanosis is an important sign of tetralogy of Fallot. Cyanosis is a bluish tint to the skin, lips, and fingernails. Low oxygen levels in the blood cause cyanosis. Babies who have unrepaired tetralogy of Fallot sometimes have ""tet spells."" These spells happen in response to an activity like crying or having a bowel movement. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tetralogy of Fallot ? ### Response: Doctors diagnose tetralogy of Fallot based on a baby's signs and symptoms, a physical exam, and the results from tests and procedures. Signs and symptoms of the heart defect usually occur during the first weeks of life. Your infant's doctor may notice signs or symptoms during a routine checkup. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tetralogy of Fallot ? ### Response: Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The goal of surgery is to repair the four defects of tetralogy of Fallot so the heart can work as normally as possible. Repairing the defects can greatly improve a child's health and quality of life. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Smoking and Your Heart? ? ### Response: The chemicals in tobacco smoke harm your heart and blood vessels in many ways. For example, they: Contribute to inflammation, which may trigger plaque buildup in your arteries. Damage blood vessel walls, making them stiff and less elastic (stretchy). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sudden Cardiac Arrest ? ### Response: Sudden cardiac arrest (SCA) is a condition in which the heart suddenly and unexpectedly stops beating. If this happens, blood stops flowing to the brain and other vital organs. SCA usually causes death if it's not treated within minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sudden Cardiac Arrest ? ### Response: Ventricular fibrillation (v-fib) causes most sudden cardiac arrests (SCAs). V-fib is a type of arrhythmia. During v-fib, the ventricles (the heart's lower chambers) don't beat normally. Instead, they quiver very rapidly and irregularly. When this happens, the heart pumps little or no blood to the body. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Sudden Cardiac Arrest? ? ### Response: The risk of sudden cardiac arrest (SCA) increases: With age If you are a man. Men are more likely than women to have SCA. Some studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney disease or certain cardiac findings on tests such as an electrocardiogramhave a higher risk forSCA. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sudden Cardiac Arrest ? ### Response: Usually, the first sign of sudden cardiac arrest (SCA) is loss of consciousness (fainting). At the same time, no heartbeat (or pulse) can be felt. Some people may have a racing heartbeat or feel dizzy or light-headed just before they faint. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Sudden Cardiac Arrest ? ### Response: Sudden cardiac arrest (SCA) happens without warning and requires emergency treatment. Doctors rarely diagnose SCA with medical tests as it's happening. Instead, SCA often is diagnosed after it happens. Doctors do this by ruling out other causes of a person's sudden collapse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sudden Cardiac Arrest ? ### Response: Emergency Treatment Sudden cardiac arrest (SCA) is an emergency. A person having SCA needs to be treated with a defibrillator right away. This device sends an electric shock to the heart. The electric shock can restore a normal rhythm to a heart that's stopped beating. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Sudden Cardiac Arrest ? ### Response: Ways to prevent death due to sudden cardiac arrest (SCA) differ depending on whether: You've already had SCA You've never had SCA but are at high risk for the condition You've never had SCA and have no known risk factors for the condition " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holes in the Heart ? ### Response: Holes in the heart are simple congenital (kon-JEN-ih-tal) heart defects. Congenital heart defects are problems with the heart's structure that are present at birth. These defects change the normal flow of blood through the heart. The heart has two sides, separated by an inner wall called the septum. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Holes in the Heart ? ### Response: Mothers of children who are born with atrial septal defects (ASDs), ventricular septal defects (VSDs), or other heart defects may think they did something wrong during their pregnancies. However, most of the time, doctors don't know why congenital heart defects occur. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Holes in the Heart ? ### Response: Atrial Septal Defect Many babies who are born with atrial septal defects (ASDs) have no signs or symptoms. However, as they grow, these children may be small for their age. When signs and symptoms do occur, a heart murmur is the most common. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Holes in the Heart ? ### Response: Doctors usually diagnose holes in the heart based on a physical exam and the results from tests and procedures. The exam findings for an atrial septal defect (ASD) often aren't obvious. Thus, the diagnosis sometimes isn't made until later in childhood or even in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Holes in the Heart ? ### Response: Many holes in the heart don't need treatment, but some do. Those that do often are repaired during infancy or early childhood. Sometimes adults are treated for holes in the heart if problems develop. The treatment your child receives depends on the type, location, and size of the hole. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital Heart Defects ? ### Response: Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve: The interior walls of the heart The valves inside the heart The arteries and veins that carry blood to the heart or the body " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital Heart Defects ? ### Response: If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem. However, doctors often don't know why congenital heart defects occur. Heredity may play a role in some heart defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital Heart Defects ? ### Response: Many congenital heart defects cause few or no signs and symptoms. A doctor may not even detect signs of a heart defect during a physical exam. Some heart defects do cause signs and symptoms. They depend on the number, type, and severity of the defects. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital Heart Defects ? ### Response: Severe congenital heart defects generally are diagnosed during pregnancy or soon after birth. Less severe defects often aren't diagnosed until children are older. Minor defects often have no signs or symptoms. Doctors may diagnose them based on results from a physical exam and tests done for another reason. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital Heart Defects ? ### Response: Although many children who have congenital heart defects don't need treatment, some do. Doctors repair congenital heart defects with catheter procedures or surgery. Sometimes doctors combine catheter and surgical procedures to repair complex heart defects, which may involve several kinds of defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bronchitis ? ### Response: Espaol Bronchitis (bron-KI-tis) is a condition in which the bronchial tubes become inflamed. These tubes carry air to your lungs. (For more information about the bronchial tubes and airways, go to the Diseases and Conditions Index How the Lungs Work article. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bronchitis ? ### Response: Acute Bronchitis Infections or lung irritants cause acute bronchitis. The same viruses that cause colds and the flu are the most common cause of acute bronchitis. Sometimes bacteria can cause the condition. Certain substances can irritate your lungs and airways and raise your risk for acute bronchitis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Bronchitis? ? ### Response: Bronchitis is a very common condition. Millions of cases occur every year. Elderly people, infants, and young children are at higher risk for acute bronchitis than people in other age groups. People of all ages can develop chronic bronchitis, but it occurs more often in people who are older than 45. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bronchitis ? ### Response: Acute Bronchitis Acute bronchitis caused by an infection usually develops after you already have a cold or the flu. Symptoms of a cold or the flu include sore throat, fatigue (tiredness), fever, body aches, stuffy or runny nose, vomiting, and diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Bronchitis ? ### Response: Your doctor usually will diagnose bronchitis based on your signs and symptoms. He or she may ask questions about your cough, such as how long you've had it, what you're coughing up, and how much you cough. Your doctor also will likely ask: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bronchitis ? ### Response: The main goals of treating acute and chronic bronchitis are to relieve symptoms and make breathing easier. If you have acute bronchitis, your doctor may recommend rest, plenty of fluids, and aspirin (for adults) or acetaminophen to treat fever. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Bronchitis ? ### Response: You can't always prevent acute or chronic bronchitis. However, you can take steps to lower your risk for both conditions. The most important step is to quit smoking or not start smoking. For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Overweight and Obesity ? ### Response: Espaol The terms ""overweight"" and ""obesity"" refer to body weight thats greater than what is considered healthy for a certain height. The most useful measure of overweight and obesity is body mass index (BMI). BMI is calculated from your height and weight. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Overweight and Obesity ? ### Response: Lack of Energy Balance A lack of energy balance most often causes overweight and obesity. Energy balance means that your energy IN equals your energy OUT. Energy IN is the amount of energy or calories you get from food and drinks. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Overweight and Obesity? ? ### Response: Being overweight or obese isn't a cosmetic problem. These conditions greatly raise your risk for other health problems. Overweight and Obesity-Related Health Problems in Adults Coronary Heart Disease As your body mass index rises, so does your risk for coronary heart disease (CHD). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Overweight and Obesity? ? ### Response: Overweight and obesity affect Americans of all ages, sexes, and racial/ethnic groups. This serious health problem has been growing over the last 30 years. Adults According to the National Health and Nutrition Examination Survey (NHANES) 20092010, almost 70 percent of Americans are overweight or obese. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Overweight and Obesity ? ### Response: Weight gain usually happens over time. Most people know when they've gained weight. Some of the signs of overweight or obesity include: Clothes feeling tight and needing a larger size. The scale showing that you've gained weight. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Overweight and Obesity ? ### Response: The most common way to find out whether you're overweight or obese is to figure out your body mass index (BMI). BMI is an estimate of body fat, and it's a good gauge of your risk for diseases that occur with more body fat. BMI is calculated from your height and weight. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Overweight and Obesity ? ### Response: Successful weight-loss treatments include setting goals and making lifestyle changes, such as eating fewer calories and being physically active. Medicines and weight-loss surgery also are options for some people if lifestyle changes aren't enough. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Overweight and Obesity ? ### Response: Following a healthy lifestyle can help you prevent overweight and obesity. Many lifestyle habits begin during childhood. Thus, parents and families should encourage their children to make healthy choices, such as following a healthy diet and being physically active. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cardiogenic Shock ? ### Response: Cardiogenic (kar-dee-oh-JE-nik) shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs. The condition is a medical emergency and is fatal if not treated right away. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cardiogenic Shock ? ### Response: Immediate Causes Cardiogenic shock occurs if the heart suddenly can't pump enough oxygen-rich blood to the body. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack. This damage prevents the hearts main pumping chamber, the left ventricle (VEN-trih-kul), from working well. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cardiogenic Shock? ? ### Response: The most common risk factor for cardiogenic shock is having a heart attack. If you've had a heart attack, the following factors can further increase your risk for cardiogenic shock: Older age A history of heart attacks or heart failure " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardiogenic Shock ? ### Response: A lack of oxygen-rich blood reaching the brain, kidneys, skin, and other parts of the body causes the signs and symptoms of cardiogenic shock. Some of the typical signs and symptoms of shock usually include at least two or more of the following: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cardiogenic Shock ? ### Response: The first step in diagnosing cardiogenic shock is to identify that a person is in shock. At that point, emergency treatment should begin. Once emergency treatment starts, doctors can look for the specific cause of the shock. If the reason for the shock is that the heart isn't pumping strongly enough, then the diagnosis is cardiogenic shock. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cardiogenic Shock ? ### Response: Cardiogenic shock is life threatening and requires emergency medical treatment. The condition usually is diagnosed after a person has been admitted to a hospital for a heart attack. If the person isn't already in a hospital, emergency treatment can start as soon as medical personnel arrive. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Cardiogenic Shock ? ### Response: The best way to prevent cardiogenic shock is to lower your risk for coronary heart disease (CHD) and heart attack. (For more information, go to the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart."") If you already have CHD, its important to get ongoing treatment from a doctor who has experience treating heart problems. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Disease in Women ? ### Response: Research suggests thatcoronary heart disease(CHD) begins with damage to the lining and inner layers of the coronary (heart) arteries. Several factors contribute to this damage. They include: Smoking, including secondhand smoke " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Disease in Women? ? ### Response: Certain traits, conditions, or habits may raise your risk forcoronary heart disease(CHD). These conditions are known as risk factors. Risk factors also increase the chance that existing CHD will worsen. Women generally have the same CHD risk factors as men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Disease in Women ? ### Response: The signs and symptoms ofcoronary heart disease(CHD) may differ between women and men. Some women who have CHD have no signs or symptoms. This is called silent CHD. Silent CHD may not be diagnosed until a woman has signs and symptoms of aheart attack, heart failure, or an arrhythmia(irregular heartbeat). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Disease in Women ? ### Response: Your doctor will diagnosecoronary heart disease(CHD) based on your medical and family histories, your risk factors, a physical exam, and the results from tests and procedures. No single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Disease in Women ? ### Response: Treatment forcoronary heart disease (CHD) usually is the same for both women and men. Treatment may include lifestyle changes, medicines, medical and surgical procedures, andcardiac rehabilitation(rehab). The goals of treatment are to: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Heart Disease in Women ? ### Response: Taking action to control your risk factors can help prevent or delaycoronary heart disease(CHD). Your risk for CHD increases with the number of CHD risk factors you have. One step you can take is to adopt a heart healthy lifestyle. A heart healthy lifestyle should be part of a lifelong approach to healthy living. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anemia ? ### Response: Espaol Anemia (uh-NEE-me-uh) is a condition in which your blood has a lower than normal number of red blood cells. Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that gives blood its red color. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Anemia ? ### Response: The three main causes of anemia are: Blood loss Lack of red blood cell production High rates of red blood cell destruction For some people, the condition is caused by more than one of these factors. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Anemia? ? ### Response: Anemia is a common condition. It occurs in all age, racial, and ethnic groups. Both men and women can have anemia. However, women of childbearing age are at higher risk for the condition because of blood loss from menstruation. Anemia can develop during pregnancy due to low levels of iron and folic acid (folate) and changes in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anemia ? ### Response: The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, you may find it hard to find the energy to do normal activities. Other signs and symptoms of anemia include: Shortness of breath " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anemia ? ### Response: Your doctor will diagnose anemia based on your medical and family histories, a physical exam, and results from tests and procedures. Because anemia doesn't always cause symptoms, your doctor may find out you have it while checking for another condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Anemia ? ### Response: Treatment for anemia depends on the type, cause, and severity of the condition. Treatments may include dietary changes or supplements, medicines, procedures, or surgery to treat blood loss. Goals of Treatment The goal of treatment is to increase the amount of oxygen that your blood can carry. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Anemia ? ### Response: You might be able to prevent repeat episodes of some types of anemia, especially those caused by lack of iron or vitamins. Dietary changes or supplements can prevent these types of anemia from occurring again. Treating anemia's underlying cause may prevent the condition (or prevent repeat episodes). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asbestos-Related Lung Diseases ? ### Response: Asbestos-related lung diseases are diseases caused by exposure to asbestos (as-BES-tos) fibers. Asbestos is a mineral that, in the past, was widely used in many industries. Asbestos is made up of tiny fibers that can escape into the air. When breathed in, these fibers can stay in your lungs for a long time. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Asbestos-Related Lung Diseases ? ### Response: Significant exposure to asbestos fibers causes asbestos-related lung diseases. ""Significant"" usually means you were exposed for at least several months to visible dust from the fibers. Asbestos fibers are very small. When you breathe in, they can get stuck deep in your lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Asbestos-Related Lung Diseases ? ### Response: The signs and symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Signs and symptoms may not appear for 10 to 40 or more years after exposure to asbestos. If you have pleural plaque, you may not have any signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Asbestos-Related Lung Diseases ? ### Response: Your doctor will diagnose an asbestos-related lung disease based on your past exposure to asbestos, your symptoms, a physical exam, and test results. Specialists Involved Your primary care doctor, such as a family doctor or internist, may provide ongoing care if you have an asbestos-related lung disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Asbestos-Related Lung Diseases ? ### Response: No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms and prevent or delay complications. If you have lung cancer, treatments may help slow the progress of the disease. Treatments for Pleural Plaque, Pleural Effusion, and Asbestosis " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Asbestos-Related Lung Diseases ? ### Response: You can prevent asbestos-related lung diseases by limiting your exposure to asbestos fibers. If your job requires you to work around asbestos, make sure to follow workplace rules for handling it. For example, make sure that air levels are measured, and wear a proper respirator to avoid breathing in asbestos fibers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rh Incompatibility ? ### Response: Rh incompatibility is a condition that occurs during pregnancy if a woman has Rh-negative blood and her baby has Rh-positive blood. ""Rh-negative"" and ""Rh-positive"" refer to whether your blood has Rh factor. Rh factor is a protein on red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Rh Incompatibility ? ### Response: A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive. When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Rh Incompatibility? ? ### Response: An Rh-negative woman who conceives a child with an Rh-positive man is at risk for Rhincompatibility. Rh factor is inherited (passed from parents to children through the genes). If you're Rh-negative and the father of your baby is Rh-positive, the baby has a 50 percent or more chance of having Rh-positive blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rh Incompatibility ? ### Response: Rh incompatibility doesn't cause signs or symptoms in a pregnant woman. In a baby, the condition can lead to hemolytic anemia. Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them. Red blood cells contain hemoglobin (HEE-muh-glow-bin), an iron-rich protein that carries oxygen to the body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Rh Incompatibility ? ### Response: Rh incompatibility is diagnosed with blood tests. To find out whether a baby is developing hemolytic anemia and how serious it is, doctors may use more advanced tests, such as ultrasound. Specialists Involved An obstetrician will screen for Rh incompatibility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rh Incompatibility ? ### Response: Rh incompatibility is treated with a medicine called Rh immune globulin. Treatment for a baby who has hemolytic anemia will vary based on the severity of the condition. Goals of Treatment The goals of treating Rh incompatibility are to ensure that your baby is healthy and to lower your risk for the condition in future pregnancies. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Rh Incompatibility ? ### Response: Rh incompatibility can be prevented with Rh immune globulin, as long as the medicine is given at the correct times. Once you have formed Rh antibodies, the medicine will no longer help. Thus, a woman who has Rh-negative blood must be treated with Rh immune globulin during and after each pregnancy or after any other event that allows her blood to mix with Rh-positive blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Insomnia ? ### Response: Espaol Insomnia (in-SOM-ne-ah) is a common sleep disorder. People who have insomnia have trouble falling asleep, staying asleep, or both. As a result, they may get too little sleep or have poor-quality sleep. They may not feel refreshed when they wake up. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Insomnia ? ### Response: Secondary Insomnia Secondary insomnia is the symptom or side effect of another problem. This type of insomnia often is a symptom of an emotional, neurological, or other medical or sleep disorder. Emotional disorders that can cause insomnia include depression, anxiety, and posttraumatic stress disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Insomnia? ? ### Response: Insomnia is a common disorder. It affects women more often than men. The disorder can occur at any age. However, older adults are more likely to have insomnia than younger people. People who might be at increased risk for insomnia include those who: " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Insomnia ? ### Response: The main symptom of insomnia is trouble falling or staying asleep, which leads to lack of sleep. If you have insomnia, you may: Lie awake for a long time before you fall asleep Sleep for only short periods " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Insomnia ? ### Response: Your doctor will likely diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. For example, you may have a sleep study if the cause of your insomnia is unclear. Medical History " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Insomnia ? ### Response: Lifestyle changes often can help relieve acute (short-term) insomnia. These changes might make it easier to fall asleep and stay asleep. A type of counseling called cognitive-behavioral therapy (CBT) can help relieve the anxiety linked to chronic (ongoing) insomnia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Disseminated Intravascular Coagulation ? ### Response: Disseminated intravascular coagulation (ko-ag-u-LA-shun), or DIC, is a condition in which blood clots form throughout the body's small blood vessels. These blood clots can reduce or block blood flow through the blood vessels, which can damage the body's organs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Disseminated Intravascular Coagulation ? ### Response: Some diseases and conditions can disrupt the body's normal blood clotting process and lead to disseminated intravascular coagulation (DIC). These diseases and conditions include: Sepsis (an infection in the bloodstream) Surgery and trauma " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Disseminated Intravascular Coagulation? ? ### Response: Disseminated intravascular coagulation (DIC) is the result of an underlying disease or condition. People who have one or more of the following conditions are most likely to develop DIC: Sepsis (an infection in the bloodstream) " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Disseminated Intravascular Coagulation ? ### Response: Signs and symptoms of disseminated intravascular coagulation (DIC) depend on its cause and whether the condition is acute or chronic. Acute DIC develops quickly (over hours or days) and is very serious. Chronic DIC develops more slowly (over weeks or months). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Disseminated Intravascular Coagulation ? ### Response: Your doctor will diagnose disseminated intravascular coagulation (DIC) based on your medical history, a physical exam, and test results. Your doctor also will look for the cause of DIC. Acute DIC requires emergency treatment. The condition can be life threatening if it's not treated right away. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Disseminated Intravascular Coagulation ? ### Response: Treatment for disseminated intravascular coagulation (DIC) depends on its severity and cause. The main goals of treating DIC are to control bleeding and clotting problems and treat the underlying cause. Acute Disseminated Intravascular Coagulation " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coronary Heart Disease ? ### Response: Espaol Coronary heart disease (CHD) is a disease in which a waxy substance called plaque builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. When plaque builds up in the arteries, the condition is called atherosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Coronary Heart Disease ? ### Response: Research suggests that coronary heart disease (CHD) starts when certain factors damage the inner layers of the coronary arteries. These factors include: Smoking High levels of certain fats and cholesterol in the blood " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Coronary Heart Disease? ? ### Response: In the United States, coronary heart disease (CHD) is a leading cause of death for both men and women. Each year, about 370,000 Americans die from coronary heart disease. Certain traits, conditions, or habits may raise your risk for CHD. The more risk factors you have, the more likely you are to develop the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coronary Heart Disease ? ### Response: A common symptom of coronary heart disease (CHD) is angina. Angina is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood. Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Coronary Heart Disease ? ### Response: Your doctor will diagnose coronary heart disease (CHD) based on your medical and family histories, your risk factors for CHD, a physical exam, and the results from tests and procedures. No single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coronary Heart Disease ? ### Response: Treatments for coronary heart disease include heart-healthy lifestyle changes, medicines, medical procedures and surgery, and cardiac rehabilitation. Treatment goals may include: Lowering the risk of blood clots forming (blood clots can cause a heart attack) " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Coronary Heart Disease ? ### Response: You can prevent and control coronary heart disease (CHD)by taking action to control your risk factors with heart-healthy lifestyle changes and medicines. Examples of risk factors you can control include high blood cholesterol, high blood pressure, and overweight and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vasculitis ? ### Response: Vasculitis (vas-kyu-LI-tis) is a condition that involves inflammation in the blood vessels. The condition occurs if your immune system attacks your blood vessels by mistake. This may happen as the result of an infection, a medicine, or another disease or condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Vasculitis ? ### Response: Vasculitis occurs if your immune system attacks your blood vessels by mistake. What causes this to happen isn't fully known. A recent or chronic (ongoing) infection may prompt the attack. Your body also may attack its own blood vessels in reaction to a medicine. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Vasculitis? ? ### Response: Vasculitis can affect people of all ages and races and both sexes. Some types of vasculitis seem to occur more often in people who: Have certain medical conditions, such as chronic hepatitis B or C infection Have certain autoimmune diseases, such a lupus, rheumatoid arthritis, and scleroderma " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vasculitis ? ### Response: The signs and symptoms of vasculitis vary. They depend on the type of vasculitis you have, the organs involved, and the severity of the condition. Some people may have few signs and symptoms. Other people may become very sick. Sometimes the signs and symptoms develop slowly, over months. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Vasculitis ? ### Response: Your doctor will diagnose vasculitis based on your signs and symptoms, your medical history, a physical exam, and test results. Specialists Involved Depending on the type of vasculitis you have and the organs affected, your doctor may refer you to various specialists, including: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vasculitis ? ### Response: Treatment for vasculitis will depend on the type of vasculitis you have, which organs are affected, and the severity of the condition. People who have severe vasculitis are treated with prescription medicines. Rarely, surgery may be done. People who have mild vasculitis may find relief with over-the-counter pain medicines, such as acetaminophen, aspirin, ibuprofen, or naproxen. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Vasculitis ? ### Response: You can't prevent vasculitis. However, treatment can help prevent or delay the complications of vasculitis. People who have severe vasculitis are treated with prescription medicines. Rarely, surgery may be done. People who have mild vasculitis may find relief with over-the-counter pain medicines, such as acetaminophen, aspirin, ibuprofen, or naproxen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpha-1 Antitrypsin Deficiency ? ### Response: Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases. Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alpha-1 Antitrypsin Deficiency ? ### Response: Alpha-1 antitrypsin (AAT) deficiency is an inherited disease. ""Inherited"" means it's passed from parents to children through genes. Children who have AAT deficiency inherit two faulty AAT genes, one from each parent. These genes tell cells in the body how to make AAT proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Alpha-1 Antitrypsin Deficiency? ? ### Response: Alpha-1 antitrypsin (AAT) deficiency occurs in all ethnic groups. However, the condition occurs most often in White people of European descent. AAT deficiency is an inherited condition. ""Inherited"" means the condition is passed from parents to children through genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-1 Antitrypsin Deficiency ? ### Response: The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40. Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alpha-1 Antitrypsin Deficiency ? ### Response: Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition. Your doctor may suspect AAT deficiency if you have signs or symptoms of a serious lung condition, especially emphysema, without any obvious cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alpha-1 Antitrypsin Deficiency ? ### Response: Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease). If you have symptoms related to AAT deficiency, your doctor may recommend: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Alpha-1 Antitrypsin Deficiency ? ### Response: You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from parents to children through genes). If you inherit two faulty AAT genes, you'll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cystic Fibrosis ? ### Response: Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. ""Inherited"" means the disease is passed from parents to children through genes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cystic Fibrosis ? ### Response: A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cystic Fibrosis? ? ### Response: Cystic fibrosis (CF) affects both males and females and people from all racial and ethnic groups. However, the disease is most common among Caucasians of Northern European descent. CF also is common among Latinos and American Indians, especially the Pueblo and Zuni. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cystic Fibrosis ? ### Response: The signs and symptoms of cystic fibrosis (CF) vary from person to person and over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. One of the first signs of CF that parents may notice is that their baby's skin tastes salty when kissed, or the baby doesn't pass stool when first born. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cystic Fibrosis ? ### Response: Doctors diagnose cystic fibrosis (CF) based on the results from various tests. Newborn Screening All States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cystic Fibrosis ? ### Response: Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include: Preventing and controlling lung infections Loosening and removing thick, sticky mucus from the lungs " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Artery Disease ? ### Response: Peripheral artery disease (P.A.D.) is a disease in which plaque builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. When plaque builds up in the body's arteries, the condition is called atherosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Peripheral Artery Disease ? ### Response: The most common cause of peripheral arterydisease (P.A.D.) is atherosclerosis. Atherosclerosis is a disease in which plaque builds up in your arteries. The exact cause of atherosclerosis isn't known. The disease may start if certain factors damage the inner layers of the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Peripheral Artery Disease? ? ### Response: Peripheral artery disease (P.A.D.) affects millions of people in the United States. The disease is more common in blacks than any other racial or ethnic group.The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peripheral Artery Disease ? ### Response: Many people who have peripheral artery disease (P.A.D.) dont have any signs or symptoms. Even if you don't have signs or symptoms, ask your doctor whether you should get checked for P.A.D. if you're: Aged 70 or older " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Peripheral Artery Disease ? ### Response: Peripheral artery disease (P.A.D.) is diagnosed based on your medical and family histories, a physical exam, and test results. P.A.D. often is diagnosed after symptoms are reported. A correct diagnosis is important because people who have P. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peripheral Artery Disease ? ### Response: Treatments for peripheral artery disease (P.A.D.) include lifestyle changes, medicines, and surgery or procedures. The overall goals of treating P.A.D. include reducing risk of heart attack and stroke; reducing symptoms of claudication; improving mobility and overall quality of life; and preventing complications. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Peripheral Artery Disease ? ### Response: Taking action to control your risk factors can help prevent or delay peripheral artery disease (P.A.D.) and its complications. Know your family history of health problems related to P.A.D. If you or someone in your family has the disease, be sure to tell your doctor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sarcoidosis ? ### Response: Espaol Sarcoidosis (sar-koy-DO-sis) is a disease of unknown cause that leads to inflammation. This disease affects your bodys organs. Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sarcoidosis ? ### Response: The cause of sarcoidosis isn't known. More than one factor may play a role in causing the disease. Some researchers think that sarcoidosis develops if your immune system responds to a trigger, such as bacteria, viruses, dust, or chemicals. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Sarcoidosis? ? ### Response: Sarcoidosis affects people of all ages and races. However, it's more common among African Americans and Northern Europeans. In the United States, the disease affects African Americans somewhat more often and more severely than Whites. Studies have shown that sarcoidosis tends to vary amongst ethnic groups. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sarcoidosis ? ### Response: Many people who have sarcoidosis have no signs or symptoms or mild ones. Often, the disease is found when a chest x ray is done for another reason (for example, to diagnose pneumonia). The signs and symptoms of sarcoidosis vary depending on which organs are affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Sarcoidosis ? ### Response: Your doctor will diagnose sarcoidosis based on your medical history, a physical exam, and test results. He or she will look for granulomas (inflamed lumps) in your organs. Your doctor also will try to rule out other possible causes of your symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sarcoidosis ? ### Response: Not everyone who has sarcoidosis needs treatment. Sometimes the disease goes away on its own. Whether you need treatment and what type of treatment you need depend on your signs and symptoms, which organs are affected, and whether those organs are working well. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thrombocytopenia ? ### Response: Thrombocytopenia (THROM-bo-si-to-PE-ne-ah) is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets). Platelets are made in your bone marrow along with other kinds of blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thrombocytopenia ? ### Response: Many factors can cause thrombocytopenia (a low platelet count). The condition can be inherited or acquired. ""Inherited"" means your parents pass the gene for the condition to you. ""Acquired"" means you aren't born with the condition, but you develop it. Sometimes the cause of thrombocytopenia isn't known. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Thrombocytopenia? ? ### Response: People who are at highest risk for thrombocytopenia are those affected by one of the conditions or factors discussed in ""What Causes Thrombocytopenia?"" This includes people who: Have certain types of cancer, aplastic anemia, or autoimmune diseases " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thrombocytopenia ? ### Response: Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding). Signs and symptoms can appear suddenly or over time. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thrombocytopenia ? ### Response: Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thrombocytopenia ? ### Response: Treatment for thrombocytopenia depends on its cause and severity. The main goal of treatment is to prevent death and disability caused by bleeding. If your condition is mild, you may not need treatment. A fully normal platelet count isn't necessary to prevent bleeding, even with severe cuts or accidents. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Thrombocytopenia ? ### Response: Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example: Avoid heavy drinking. Alcohol slows the production of platelets. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Immune Thrombocytopenia ? ### Response: Immune thrombocytopenia (THROM-bo-si-toe-PE-ne-ah), or ITP, is a bleeding disorder. In ITP, the blood doesn't clot as it should. This is due to a low number of blood cell fragments called platelets (PLATE-lets) or thrombocytes (THROM-bo-sites). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Immune Thrombocytopenia ? ### Response: In most cases, an autoimmune response is thought to cause immune thrombocytopenia (ITP). Normally, your immune system helps your body fight off infections and diseases. In ITP, however, your immune system attacks and destroys your body's platelets by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Immune Thrombocytopenia? ? ### Response: Immune thrombocytopenia (ITP) is a fairly common blood disorder. Both children and adults can develop ITP. Children usually have the acute (short-term) type of ITP. Acute ITP often develops after a viral infection. Adults tend to have the chronic (long-lasting) type of ITP. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immune Thrombocytopenia ? ### Response: Immune thrombocytopenia (ITP) may not cause any signs or symptoms. However, ITP can cause bleeding inside the body (internal bleeding) or underneath or from the skin (external bleeding). Signs of bleeding may include: Bruising or purplish areas on the skin or mucous membranes (such as in the mouth). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Immune Thrombocytopenia ? ### Response: Your doctor will diagnose immune thrombocytopenia (ITP) based on your medical history, a physical exam, and test results. Your doctor will want to make sure that your low platelet count isn't due to another condition (such as an infection) or medicines you're taking (such as chemotherapy medicines or aspirin). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Immune Thrombocytopenia ? ### Response: Treatment for immune thrombocytopenia (ITP) is based on how much and how often you're bleeding and your platelet count. Adults who have mild ITP may not need any treatment, other than watching their symptoms and platelet counts. Adults who have ITP with very low platelet counts or bleeding problems often are treated. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Immune Thrombocytopenia ? ### Response: You can't prevent immune thrombocytopenia (ITP), but you can prevent its complications. Talk with your doctor about which medicines are safe for you. Your doctor may advise you to avoid medicines that can affect your platelets and increase your risk of bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arrhythmia ? ### Response: Espaol An arrhythmia (ah-RITH-me-ah) is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. A heartbeat that is too fast is called tachycardia (TAK-ih-KAR-de-ah). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Arrhythmia ? ### Response: An arrhythmia can occur if the electrical signals that control the heartbeat are delayed or blocked. This can happen if the special nerve cells that produce electrical signals don't work properly. It also can happen if the electrical signals don't travel normally through the heart. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Arrhythmia? ? ### Response: Arrhythmias are very common in older adults. Atrial fibrillation (a common type of arrhythmia that can cause problems) affects millions of people, and the number is rising. Most serious arrhythmias affect people older than 60. This is because older adults are more likely to have heart disease and other health problems that can lead to arrhythmias. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arrhythmia ? ### Response: Many arrhythmias cause no signs or symptoms. When signs or symptoms are present, the most common ones are: Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast) A slow heartbeat " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Arrhythmia ? ### Response: Arrhythmias can be hard to diagnose, especially the types that only cause symptoms every once in a while. Doctors diagnose arrhythmias based on medical and family histories, a physical exam, and the results from tests and procedures. Specialists Involved " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arrhythmia ? ### Response: Common arrhythmia treatments include medicines, medical procedures, and surgery. Your doctor may recommend treatment if your arrhythmia causes serious symptoms, such as dizziness, chest pain, or fainting. Your doctor also may recommend treatment if the arrhythmia increases your risk for problems such as heart failure, stroke, or sudden cardiac arrest. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Interstitial Lung Disease ? ### Response: Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Childhood Interstitial Lung Disease ? ### Response: Researchers don't yet know all of the causes of childhood interstitial lung disease (chILD). Many times, these diseases have no clear cause. Some conditions and factors that may cause or lead to chILD include: Inherited conditions, such as surfactant disorders. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Childhood Interstitial Lung Disease? ? ### Response: Childhood interstitial lung disease (chILD) is rare. Most children are not at risk for chILD. However, some factors increase the risk of developing chILD. These risk factors include: Having a family history of interstitial lung disease or chILD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood Interstitial Lung Disease ? ### Response: Childhood interstitial lung disease (chILD) has many signs and symptoms because the disease has many forms. Signs and symptoms may include: Fast breathing, which also is called tachypnea (tak-ip-NE-ah) Labored breathing, which also is called respiratory distress " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Childhood Interstitial Lung Disease ? ### Response: Doctors diagnose childhood interstitial lung disease (chILD) based on a child's medical and family histories and the results from tests and procedures. To diagnose chILD, doctors may first need to rule out other diseases as the cause of a child's symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Childhood Interstitial Lung Disease ? ### Response: Childhood interstitial lung disease (chILD) is rare, and little research has been done on how to treat it. At this time, chILD has no cure. However, some children who have certain diseases, such as neuroendocrine cell hyperplasia of infancy, may slowly improve over time. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Childhood Interstitial Lung Disease ? ### Response: At this time, most types of childhood interstitial lung disease (chILD) can't be prevented. People who have a family history of inherited (genetic) interstitial lung disease may want to consider genetic counseling. A counselor can explain the risk of children inheriting chILD. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Von Willebrand Disease ? ### Response: Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs. Rarely, the bleeding may even cause death. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Von Willebrand Disease ? ### Response: Von Willebrand disease (VWD) is almost always inherited. ""Inherited"" means that the disorder is passed from parents to children though genes. You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Von Willebrand Disease ? ### Response: The signs and symptoms of von Willebrand disease (VWD) depend on which type of the disorder you have. They also depend on how serious the disorder is. Many people have such mild symptoms that they don't know they have VWD. If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Von Willebrand Disease ? ### Response: Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life. Sometimes VWD is hard to diagnose. People who have type 1 or type 2 VWD may not have major bleeding problems. Thus, they may not be diagnosed unless they have heavy bleeding after surgery or some other trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Von Willebrand Disease ? ### Response: Treatment for von Willebrand disease (VWD) is based on the type of VWD you have and how severe it is. Most cases of VWD are mild, and you may need treatment only if you have surgery, tooth extraction, or an accident. Medicines are used to: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypotension ? ### Response: Hypotension (HI-po-TEN-shun) is abnormally low blood pressure. Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood. Blood pressure is measured as systolic (sis-TOL-ik) and diastolic (di-a-STOL-ik) pressures. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypotension ? ### Response: Conditions or factors that disrupt the body's ability to control blood pressure cause hypotension. The different types of hypotension have different causes. Orthostatic Hypotension Orthostatic hypotension has many causes. Sometimes two or more factors combine to cause this type of low blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hypotension? ? ### Response: Hypotension can affect people of all ages. However, people in certain age groups are more likely to have certain types of hypotension. Older adults are more likely to have orthostatic and postprandial hypotension. Children and young adults are more likely to have neurally mediated hypotension. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypotension ? ### Response: Orthostatic Hypotension and Neurally Mediated Hypotension The signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include: Dizziness or light-headedness Blurry vision " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypotension ? ### Response: Hypotension is diagnosed based on your medical history, a physical exam, and test results. Your doctor will want to know: The type of hypotension you have and how severe it is Whether an underlying condition is causing the hypotension " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypotension ? ### Response: Treatment depends on the type of hypotension you have and the severity of your signs and symptoms. The goal of treatment is to bring blood pressure back to normal to relieve signs and symptoms. Another goal is to manage any underlying condition causing the hypotension. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carotid Artery Disease ? ### Response: Carotid artery disease is a disease in which a waxy substance called plaque builds up inside the carotid arteries. You have two common carotid arteries, one on each side of your neck. They each divide into internal and external carotid arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Carotid Artery Disease ? ### Response: Carotid artery disease seems to start when damage occurs to the inner layers of the carotid arteries. Major factors that contribute to damage include: Smoking High levels of certain fats and cholesterol in the blood " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Carotid Artery Disease? ? ### Response: The major risk factors for carotid artery disease, listed below, also are the major risk factors for coronary heart disease (also called coronary artery disease) and peripheral artery disease. Diabetes. With this disease, the bodys blood sugar level is too high because the body doesnt make enough insulin or doesnt use its insulin properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carotid Artery Disease ? ### Response: Carotid artery disease may not cause signs or symptoms until it severely narrows or blocks a carotid artery. Signs and symptoms may include a bruit, a transient ischemic attack(TIA), or a stroke. Bruit During a physical exam, your doctor may listen to your carotid arteries with a stethoscope. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Carotid Artery Disease ? ### Response: Your doctor will diagnose carotid artery disease based on your medical history, a physical exam, and test results. Medical History Your doctor will find out whether you have any of the major risk factors for carotid artery disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Carotid Artery Disease ? ### Response: Treatments for carotid artery disease may include healthy lifestyle changes, medicines, and medical procedures. The goals of treatment are to stop the disease from getting worse and to prevent a stroke. Your treatment will depend on your symptoms, how severe the disease is, and your age and overall health. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Carotid Artery Disease ? ### Response: Taking action to control your risk factors can help prevent or delay carotid artery disease and stroke. Your risk for carotid artery disease increases with the number of risk factors you have. One step you can take is to adopt a heart-healthy lifestyle, which can include: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Varicose Veins ? ### Response: Espaol Varicose (VAR-i-kos) veins are swollen, twisted veins that you can see just under the surface of the skin. These veins usually occur in the legs, but they also can form in other parts of the body. Varicose veins are a common condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Varicose Veins ? ### Response: Weak or damaged valves in the veins can cause varicose veins. After your arteries and capillaries deliver oxygen-rich blood to your body, your veins return the blood to your heart. The veins in your legs must work against gravity to do this. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Varicose Veins? ? ### Response: Many factors may raise your risk for varicose veins, including family history, older age, gender, pregnancy, overweight or obesity, lack of movement, and leg trauma. Family History Having family members who have varicose veins may raise your risk for the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Varicose Veins ? ### Response: The signs and symptoms of varicose veins include: Large veins that you can see just under the surface of your skin. Mild swelling of your ankles and feet. Painful, achy, or ""heavy"" legs. Throbbing or cramping in your legs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Varicose Veins ? ### Response: Doctors often diagnose varicose veins based on a physical exam alone. Sometimes tests or procedures are used to find out the extent of the problem or to rule out other conditions. Specialists Involved If you have varicose veins, you may see a vascular medicine specialist or vascular surgeon. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Varicose Veins ? ### Response: Varicose veins are treated with lifestyle changes and medical procedures. The goals of treatment are to relieve symptoms, prevent complications, and improve appearance. If varicose veins cause few symptoms, your doctor may simply suggest making lifestyle changes. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Varicose Veins ? ### Response: You can't prevent varicose veins from forming. However, you can prevent the ones you have from getting worse. You also can take steps to delay other varicose veins from forming. Avoid standing or sitting for long periods without taking a break. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thrombotic Thrombocytopenic Purpura ? ### Response: Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thrombotic Thrombocytopenic Purpura ? ### Response: A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes thrombotic thrombocytopenic purpura (TTP). The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. Not having enough enzyme activity causes overactive blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Thrombotic Thrombocytopenic Purpura? ? ### Response: Thrombotic thrombocytopenic purpura (TTP) is a rare disorder. Most cases of TTP are acquired. Acquired TTP mostly occurs in adults, but it can affect children. The condition occurs more often in women and in Black people than in other groups. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thrombotic Thrombocytopenic Purpura ? ### Response: Blood clots, a low platelet count, and damaged red blood cells cause the signs and symptoms of thrombotic thrombocytopenic purpura (TTP). The signs and symptoms include: Purplish bruises on the skin or mucous membranes (such as in the mouth). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thrombotic Thrombocytopenic Purpura ? ### Response: Your doctor will diagnosis thrombotic thrombocytopenic purpura (TTP) based on your medical history, a physical exam, and test results. If TTP is suspected or diagnosed, a hematologist will be involved in your care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thrombotic Thrombocytopenic Purpura ? ### Response: Thrombotic thrombocytopenic purpura (TTP) can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away. In most cases, TTP occurs suddenly and lasts for days or weeks, but it can go on for months. Relapses (flareups) can occur in up to 60 percent of people who have acquired TTP. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Thrombotic Thrombocytopenic Purpura ? ### Response: Both inherited and acquired thrombotic thrombocytopenic purpura (TTP) occur suddenly with no clear cause. You can't prevent either type. If you've had TTP, watch for signs and symptoms of a relapse (flareup). (For more information, go to ""Living With Thrombotic Thrombocytopenic Purpura. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitral Valve Prolapse ? ### Response: Mitral valve prolapse (MVP) is a condition in which the hearts mitral valve doesnt work well. The flaps of the valve are floppy and may not close tightly. These flaps normally help seal or open the valve. Much of the time, MVP doesnt cause any problems. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mitral Valve Prolapse ? ### Response: The exact cause of mitral valve prolapse (MVP) isn't known. Most people who have the condition are born with it. MVP tends to run in families. Also, it's more common in people who are born with connective tissue disorders, such as Marfan syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Mitral Valve Prolapse? ? ### Response: Mitral valve prolapse (MVP) affects people of all ages and both sexes; however, aging raises the risk of developing the disease. Certain conditions have been associated with MVP, including: A history of rheumatic fever " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitral Valve Prolapse ? ### Response: Most people who have mitral valve prolapse (MVP) aren't affected by the condition. They don't have any symptoms or major mitral valve backflow. When MVP does cause signs and symptoms, they may include: Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast) " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mitral Valve Prolapse ? ### Response: Mitral valve prolapse (MVP) most often is detected during a routine physical exam. During the exam, your doctor will listen to your heart with a stethoscope. Stretched valve flaps can make a clicking sound as they shut. If the mitral valve is leaking blood back into the left atrium, your doctor may heart a heart murmur or whooshing sound. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitral Valve Prolapse ? ### Response: Most people who have mitral valve prolapse (MVP) dont need treatment because they dont have symptoms and complications. Even people who do have symptoms may not need treatment. The presence of symptoms doesnt always mean that the backflow of blood through the valve is significant. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Mitral Valve Prolapse ? ### Response: You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it. Complications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Failure ? ### Response: Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. In some cases, the heart can't fill with enough blood. In other cases, the heart can't pump blood to the rest of the body with enough force. Some people have both problems. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Failure ? ### Response: Conditions that damage or overwork the heart muscle can cause heart failure. Over time, the heart weakens. It isnt able to fill with and/or pump blood as well as it should. As the heart weakens, certain proteins and substances might be released into the blood. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Failure? ? ### Response: About 5.7 million people in the United States have heart failure. The number of people who have this condition is growing. Heart failure is more common in: People who are age 65 or older. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Failure ? ### Response: The most common signs and symptoms of heart failure are: Shortness of breath or trouble breathing Fatigue (tiredness) Swelling in the ankles, feet, legs, abdomen, and veins in the neck All of these symptoms are the result of fluid buildup in your body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Failure ? ### Response: Your doctor will diagnose heart failure based on your medical and family histories, a physical exam, and test results. The signs and symptoms of heart failure also are common in other conditions. Thus, your doctor will: Find out whether you have a disease or condition that can cause heart failure, such as coronary heart disease (CHD), high blood pressure, or diabetes " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Failure ? ### Response: Early diagnosis and treatment can help people who have heart failure live longer, more active lives. Treatment for heart failure depends on the type and severity of the heart failure. The goals of treatment for all stages of heart failure include: " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Heart Failure ? ### Response: You can take steps to prevent heart failure. The sooner you start, the better your chances of preventing or delaying the condition. For People Who Have Healthy Hearts If you have a healthy heart, you can take action to prevent heart disease and heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Broken Heart Syndrome ? ### Response: Broken heart syndrome is a condition in which extreme stress can lead to heart muscle failure. The failure is severe, but often short-term. Most people who experience broken heart syndrome think they may be having a heart attack, a more common medical emergency caused by a blocked coronary (heart) artery. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Broken Heart Syndrome ? ### Response: The cause of broken heart syndrome isnt fully known. However, extreme emotional or physical stress is believed to play a role in causing the temporary disorder. Although symptoms are similar to those of a heart attack, what is happening to the heart is quite different. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Broken Heart Syndrome? ? ### Response: Broken heart syndrome affects women more often than men. Often, people who experience broken heart syndrome have previously been healthy. Research shows that the traditional risk factors for heart disease may not apply to broken heart syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Broken Heart Syndrome ? ### Response: All chest pain should be checked by a doctor. Because symptoms of broken heart syndrome are similar to those of a heart attack, it is important to seek help right away. Your doctor may not be able to diagnose broken heart syndrome until you have some tests. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Broken Heart Syndrome ? ### Response: Because the symptoms are similar, at first your doctor may not be able to tell whether you are experiencing broken heart syndrome or having a heart attack. Therefore, the doctors immediate goals will be: To determine whats causing your symptoms " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Broken Heart Syndrome ? ### Response: Even though broken heart syndrome may feel like a heart attack, its a very different problem that needs a different type of treatment. The good news is that broken heart syndrome is usually treatable, and most people make a full recovery. Most people who experience broken heart syndrome stay in the hospital for a few days to a week. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Broken Heart Syndrome ? ### Response: Researchers are still learning about broken heart syndrome, and no treatments have been shown to prevent it. For people who have experienced the condition, the risk of recurrence is low. An emotionally upsetting or serious physical event can trigger broken heart syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Narcolepsy ? ### Response: Narcolepsy (NAR-ko-lep-se) is a disorder that causes periods of extreme daytime sleepiness. The disorder also may cause muscle weakness. Most people who have narcolepsy have trouble sleeping at night. Some people who have the disorder fall asleep suddenly, even if they're in the middle of talking, eating, or another activity. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Narcolepsy ? ### Response: Most people who have narcolepsy have low levels of hypocretin. This is a chemical in the brain that helps promote wakefulness. What causes low hypocretin levels isn't well understood. Researchers think that certain factors may work together to cause a lack of hypocretin. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Narcolepsy? ? ### Response: Narcolepsy affects men and women. Symptoms usually begin during the teen or young adult years. The disorder also can develop later in life or in children, but it's rare before age 5. Researchers think that certain factors may work together to cause narcolepsy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Narcolepsy ? ### Response: The four major signs and symptoms of narcolepsy are extreme daytime sleepiness, cataplexy (muscle weakness) while awake, and hallucinations and sleep paralysis during sleep. If you have narcolepsy, you may have one or more of these symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Narcolepsy ? ### Response: It can take as long as 10 to 15 years after the first symptoms appear before narcolepsy is recognized and diagnosed. This is because narcolepsy is fairly rare. Also, many narcolepsy symptoms are like symptoms of other illnesses, such as infections, depression, and sleep disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Narcolepsy ? ### Response: Narcolepsy has no cure. However, medicines, lifestyle changes, and other therapies can relieve many of its symptoms. Treatment for narcolepsy is based on the type of symptoms you have and how severe they are. Not all medicines and lifestyle changes work for everyone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bronchiectasis ? ### Response: Bronchiectasis (brong-ke-EK-ta-sis) is a condition in which damage to the airways causes them to widen and become flabby and scarred. The airways are tubes that carry air in and out of your lungs. Bronchiectasis usually is the result of an infection or other condition that injures the walls of your airways or prevents the airways from clearing mucus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bronchiectasis ? ### Response: Damage to the walls of the airways usually is the cause of bronchiectasis. A lung infection may cause this damage. Examples of lung infections that can lead to bronchiectasis include: Severe pneumonia (nu-MO-ne-ah) Whooping cough or measles (uncommon in the United States due to vaccination) " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Bronchiectasis? ? ### Response: People who have conditions that damage the lungs or increase the risk of lung infections are at risk for bronchiectasis. Such conditions include: Cystic fibrosis. This disease leads to almost half of the cases of bronchiectasis in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bronchiectasis ? ### Response: The initial airway damage that leads to bronchiectasis often begins in childhood. However, signs and symptoms may not appear until months or even years after you start having repeated lung infections. The most common signs and symptoms of bronchiectasis are: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Bronchiectasis ? ### Response: Your doctor may suspect bronchiectasis if you have a daily cough that produces large amounts of sputum (spit). To find out whether you have bronchiectasis, your doctor may recommend tests to: Identify any underlying causes that require treatment " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bronchiectasis ? ### Response: Bronchiectasis often is treated with medicines, hydration, and chest physical therapy (CPT). Your doctor may recommend surgery if the bronchiectasis is isolated to a section of lung or you have a lot of bleeding. If the bronchiectasis is widespread and causing respiratory failure, your doctor may recommend oxygen therapy. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Bronchiectasis ? ### Response: To prevent bronchiectasis, it's important to prevent the lung infections and lung damage that can cause it. Childhood vaccines for measles and whooping cough prevent infections related to these illnesses. These vaccines also reduce complications from these infections, such as bronchiectasis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coronary Microvascular Disease ? ### Response: Coronary microvascular disease (MVD) is heart disease that affects the tiny coronary (heart) arteries. In coronary MVD, the walls of the heart's tiny arteries are damaged or diseased. Coronary MVD is different from traditional coronary heart disease (CHD), also called coronary artery disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Coronary Microvascular Disease ? ### Response: The same risk factors that cause atherosclerosis may cause coronary microvascular disease. Atherosclerosis is a disease in which plaque builds up inside the arteries. Risk factors for atherosclerosis include: Diabetes. It is a disease in which the bodys blood sugar level is too high because the body doesnt make enough insulin or doesnt use its insulin properly. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Coronary Microvascular Disease? ? ### Response: Coronary microvascular disease can affect both men and women. However, women may be at risk for coronary microvascular disease if they have lower than normal levels of estrogen at any point in their adult lives. (This refers to the estrogen that the ovaries produce, not the estrogen used in hormone therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coronary Microvascular Disease ? ### Response: The signs and symptoms of coronary microvascular disease (MVD) often differ from the signs and symptoms of traditional coronary heart disease (CHD). Many women with coronary MVD have angina (an-JI-nuh or AN-juh-nuh). Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Coronary Microvascular Disease ? ### Response: Your doctor will diagnose coronary microvascular disease (MVD) based on your medical history, a physical exam, and test results. He or she will check to see whether you have any risk factors for heart disease. For example, your doctor may measure your weight and height to check for overweight or obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coronary Microvascular Disease ? ### Response: Relieving pain is one of the main goals of treating coronary microvascular disease (MVD). Treatments also are used to control risk factors and other symptoms. Treatments may include medicines, such as: ACE inhibitors and beta blockers to lower blood pressure and decrease the hearts workload " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Coronary Microvascular Disease ? ### Response: No specific studies have been done on how to prevent coronary microvascular disease. Researchers dont yet know how or in what way preventing coronary microvascular disease differs from preventing coronary heart disease. Coronary microvascular disease affects the tiny coronary arteries; coronary heart disease affects the large coronary arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pneumonia ? ### Response: Many germs can cause pneumonia. Examples include different kinds of bacteria, viruses, and, less often, fungi. Most of the time, the body filters germs out of the air that we breathe to protect the lungs from infection. Your immune system, the shape of your nose and throat, your ability to cough, and fine, hair-like structures called cilia (SIL-e-ah) help stop the germs from reaching your lungs. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pneumonia? ? ### Response: Pneumonia can affect people of all ages. However, two age groups are at greater risk of developing pneumonia: Infants who are 2 years old or younger (because their immune systems are still developing during the first few years of life) " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pneumonia ? ### Response: The signs and symptoms of pneumonia vary from mild to severe. Many factors affect how serious pneumonia is, including the type of germ causing the infection and your age and overall health. (For more information, go to ""Who Is at Risk for Pneumonia?"") " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pneumonia ? ### Response: Pneumonia can be hard to diagnose because it may seem like a cold or the flu. You may not realize it's more serious until it lasts longer than these other conditions. Your doctor will diagnose pneumonia based on your medical history, a physical exam, and test results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pneumonia ? ### Response: Treatment for pneumonia depends on the type of pneumonia you have and how severe it is. Most people who have community-acquired pneumoniathe most common type of pneumoniaare treated at home. The goals of treatment are to cure the infection and prevent complications. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Pneumonia ? ### Response: Pneumonia can be very serious and even life threatening. When possible, take steps to prevent the infection, especially if you're in a high-risk group. Vaccines Vaccines are available to prevent pneumococcal pneumonia and the flu. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pernicious Anemia ? ### Response: Pernicious anemia (per-NISH-us uh-NEE-me-uh) is a condition in which the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12. Vitamin B12 is a nutrient found in some foods. The body needs this nutrient to make healthy red blood cells and to keep its nervous system working properly. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pernicious Anemia ? ### Response: Pernicious anemia is caused by a lack of intrinsic factor or other causes, such as infections, surgery, medicines, or diet. Lack of Intrinsic Factor Intrinsic factor is a protein made in the stomach. It helps your body absorb vitamin B12. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pernicious Anemia? ? ### Response: Pernicious anemia is more common in people of Northern European and African descent than in other ethnic groups. Older people also are at higher risk for the condition. This is mainly due to a lack of stomach acid and intrinsic factor, which prevents the small intestine from absorbing vitamin B12. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pernicious Anemia ? ### Response: A lack of vitamin B12 (vitamin B12 deficiency) causes the signs and symptoms of pernicious anemia. Without enough vitamin B12, your body can't make enough healthy red blood cells, which causes anemia. Some of the signs and symptoms of pernicious anemia apply to all types of anemia. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pernicious Anemia ? ### Response: Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results. Your doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be properly treated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pernicious Anemia ? ### Response: Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. The goals of treating pernicious anemia include: Preventing or treating the anemia and its signs and symptoms " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Pernicious Anemia ? ### Response: You can't prevent pernicious anemia caused by a lack of intrinsic factor. Without intrinsic factor, you won't be able to absorb vitamin B12 and will develop pernicious anemia. Although uncommon, some people develop pernicious anemia because they don't get enough vitamin B12 in their diets. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sleep Apnea ? ### Response: Espaol Sleep apnea (AP-ne-ah) is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Breathing pauses can last from a few seconds to minutes. They may occur 30times or more an hour. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sleep Apnea ? ### Response: When you're awake, throat muscles help keep your airway stiff and open so air can flow into your lungs. When you sleep, these muscles relax, which narrows your throat. Normally, this narrowing doesnt prevent air from flowing into and out of your lungs. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Sleep Apnea? ? ### Response: Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight. Men are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sleep Apnea ? ### Response: Major Signs and Symptoms One of the most common signs of obstructive sleep apnea is loud and chronic (ongoing) snoring. Pauses may occur in the snoring. Choking or gasping may follow the pauses. The snoring usually is loudest when you sleep on your back; it might be less noisy when you turn on your side. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Sleep Apnea ? ### Response: Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. Your primary care doctor may evaluate your symptoms first. He or she will then decide whether you need to see a sleep specialist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sleep Apnea ? ### Response: Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition. The goals of treating sleep apnea are to: Restore regular breathing during sleep " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sleep Deprivation and Deficiency ? ### Response: Sleep deprivation (DEP-rih-VA-shun) is a condition that occurs if you don't get enough sleep. Sleep deficiency is a broader concept. It occurs if you have one or more of the following: You don't get enough sleep (sleep deprivation) " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Sleep Deprivation and Deficiency? ? ### Response: Sleep deficiency, which includes sleep deprivation, affects people of all ages, races, and ethnicities. Certain groups of people may be more likely to be sleep deficient. Examples include people who: Have limited time available for sleep, such as caregivers or people working long hours or more than one job " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sleep Deprivation and Deficiency ? ### Response: Sleep deficiency can cause you to feel very tired during the day. You may not feel refreshed and alert when you wake up. Sleep deficiency also can interfere with work, school, driving, and social functioning. How sleepy you feel during the day can help you figure out whether you're having symptoms of problem sleepiness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Electrocardiogram ? ### Response: An electrocardiogram (e-lek-tro-KAR-de-o-gram), also called an EKG or ECG, is a simple, painless test that records the heart's electrical activity. To understand this test, it helps to understand how the heart works. With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Electrocardiogram ? ### Response: An electrocardiogram (e-lek-tro-KAR-de-o-gram), also called an EKG or ECG, is a simple, painless test that records the heart's electrical activity. To understand this test, it helps to understand how the heart works. With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Electrocardiogram ? ### Response: An electrocardiogram (EKG) is painless and harmless. A nurse or technician will attach soft, sticky patches called electrodes to the skin of your chest, arms, and legs. The patches are about the size of a quarter. Often, 12 patches are attached to your body. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Electrocardiogram ? ### Response: After an electrocardiogram (EKG), the nurse or technician will remove the electrodes (soft patches) from your skin. You may develop a rash or redness where the EKG patches were attached. This mild rash often goes away without treatment. You usually can go back to your normal daily routine after an EKG. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Electrocardiogram? ? ### Response: An electrocardiogram (EKG) has no serious risks. It's a harmless, painless test that detects the heart's electrical activity. EKGs don't give off electrical charges, such as shocks. You may develop a mild rash where the electrodes (soft patches) were attached. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Atherosclerosis ? ### Response: Espaol Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body. Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Atherosclerosis ? ### Response: The exact cause of atherosclerosis isn't known. However, studies show that atherosclerosis is a slow, complex disease that may start in childhood. It develops faster as you age. Atherosclerosis may start when certain factors damage the inner layers of the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Atherosclerosis? ? ### Response: The exact cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. The more risk factors you have, the more likely it is that you'll develop atherosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atherosclerosis ? ### Response: Atherosclerosis usually doesn't cause signs and symptoms until it severely narrows or totally blocks an artery. Many people don't know they have the disease until they have a medical emergency, such as a heart attack or stroke. Some people may have signs and symptoms of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Atherosclerosis ? ### Response: Your doctor will diagnose atherosclerosis based on your medical and family histories, a physical exam, and test results. Specialists Involved If you have atherosclerosis, a primary care doctor, such as an internist or family practitioner, may handle your care. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Atherosclerosis ? ### Response: Treatments for atherosclerosis may include heart-healthy lifestyle changes, medicines, and medical procedures or surgery. The goals of treatment include: Lowering the risk of blood clots forming Preventing atherosclerosis-related diseases " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Atherosclerosis ? ### Response: Taking action to control your risk factors can help prevent or delay atherosclerosis and its related diseases. Your risk for atherosclerosis increases with the number of risk factors youhave. One step you can take is to adopt a healthy lifestyle, which can include: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coronary Heart Disease Risk Factors ? ### Response: Coronary heart disease risk factors are conditions or habits that raise your risk of coronary heart disease (CHD) and heart attack. These risk factors also increase the chance that existing CHD will worsen. CHD, also called coronary artery disease, is a condition in which a waxy substance called plaque (plak) builds up on the inner walls of the coronary arteries. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Coronary Heart Disease Risk Factors? ? ### Response: High Blood Cholesterol and Triglyceride Levels Cholesterol High blood cholesterol is a condition in which your blood has too much cholesterola waxy, fat-like substance. The higher your blood cholesterol level, the greater your risk of coronary heart disease (CHD) and heart attack. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Coronary Heart Disease Risk Factors ? ### Response: You can prevent and control many coronary heart disease (CHD) risk factors with heart-healthy lifestyle changes and medicines. Examples of risk factors you can control include high blood cholesterol, high blood pressure, and overweight and obesity. Only a few risk factorssuch as age, gender, and family historycant be controlled. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Ciliary Dyskinesia ? ### Response: Primary ciliary dyskinesia (PCD) is a rare, inherited disease. ""Inherited"" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Primary Ciliary Dyskinesia? ? ### Response: Primary ciliary dyskinesia (PCD) is a rare disease that affects both males and females. The disease also affects people from all racial and ethnic groups. Some people who have PCD have breathing problems from the moment of birth. However, other people can go through all or most of their lives without knowing that they have the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary Ciliary Dyskinesia ? ### Response: Primary ciliary dyskinesia (PCD) mainly affects the sinuses, ears, and lungs. One sign that you might have PCD is if you have chronic (ongoing) infections in one or more of these areas. Common signs, symptoms, and complications linked to PCD include the following: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary Ciliary Dyskinesia ? ### Response: Your doctor or your child's doctor will diagnose primary ciliary dyskinesia (PCD) based on signs and symptoms and test results. If your primary care doctor thinks that you may have PCD or another lung disorder, he or she may refer you to a pulmonologist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Ciliary Dyskinesia ? ### Response: Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kawasaki Disease ? ### Response: Kawasaki (KAH-wah-SAH-ke) disease is a rare childhood disease. It's a form of a condition calledvasculitis(vas-kyu-LI-tis). This condition involves inflammation of the blood vessels. In Kawasaki disease, the walls of the blood vessels throughout the body become inflamed. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kawasaki Disease ? ### Response: The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known. Kawasaki disease can't be passed from one child to another. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Kawasaki Disease? ? ### Response: Kawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5 years old. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kawasaki Disease ? ### Response: Major Signs and Symptoms One of the main symptoms during the early part of Kawasaki disease, called the acute phase, is fever. The fever lasts longer than 5 days. It remains high even after treatment with standard childhood fever medicines. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Kawasaki Disease ? ### Response: Kawasaki disease is diagnosed based on your child's signs and symptoms and the results from tests and procedures. Specialists Involved Pediatricians often are the first to suspect a child has Kawasaki disease. Pediatricians are doctors who specialize in treating children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kawasaki Disease ? ### Response: Medicines are the main treatment for Kawasaki disease. Rarely, children whose coronary (heart) arteries are affected may need medical procedures or surgery. The goals of treatment include: Reducing fever and inflammation to improve symptoms " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kawasaki Disease ? ### Response: Medicines are the main treatment for Kawasaki disease. Rarely, children whose coronary (heart) arteries are affected may need medical procedures or surgery. The goals of treatment include: Reducing fever and inflammation to improve symptoms " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypersensitivity Pneumonitis ? ### Response: Hypersensitivity pneumonitis (noo-mo-NI-tis), or HP, is a disease in which the lungs become inflamed from breathing in foreign substances, such as molds, dusts, and chemicals. These substances also are known as antigens (AN-tih-jens). People are exposed to antigens at home, while at work, and in other settings. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypersensitivity Pneumonitis ? ### Response: Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens. Over time, your lungs can become sensitive to antigens. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hypersensitivity Pneumonitis? ? ### Response: People who repeatedly breathe in foreign substances are at risk for hypersensitivity pneumonitis (HP). These substances, which also are known as antigens, include molds, dusts, and chemicals. However, most people who breathe in these substances don't develop HP. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypersensitivity Pneumonitis ? ### Response: Signs and symptoms of hypersensitivity pneumonitis (HP) depend on whether the disease is acute (short-term) or chronic (ongoing). Acute Hypersensitivity Pneumonitis With acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypersensitivity Pneumonitis ? ### Response: To diagnose hypersensitivity pneumonitis (HP), your doctor must pinpoint the antigen that's causing the disease and its source. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.) Your doctor will ask you detailed questions about: " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypersensitivity Pneumonitis ? ### Response: The best way to treat hypersensitivity pneumonitis (HP) is to avoid the antigen that caused it. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.) In acute (short-term) HP, symptoms usually go away once you're no longer in contact with the antigen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Espaol High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. Measuring Blood Pressure Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps blood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes High Blood Pressure ? ### Response: Changes, either fromgenesor the environment, in the bodys normal functions may cause high blood pressure, including changes to kidney fluid and salt balances, therenin-angiotensin-aldosterone system,sympathetic nervous systemactivity, and blood vessel structure and function. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for High Blood Pressure? ? ### Response: Anyone can develop high blood pressure; however, age, race or ethnicity, being overweight, gender, lifestyle habits, and a family history of high blood pressure can increase your risk for developing high blood pressure. Age " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High Blood Pressure ? ### Response: Because diagnosis is based on blood pressure readings, this condition can go undetected for years, as symptoms do not usually appear until the body is damaged from chronic high blood pressure. Complications of High Blood Pressure " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Pressure ? ### Response: For most patients, health care providers diagnose high blood pressure when blood pressure readings areconsistently 140/90 mmHg or above. Confirming High Blood Pressure A blood pressure test is easy and painless and can be done in a health care providers office or clinic. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for High Blood Pressure ? ### Response: Based on your diagnosis, health care providers develop treatment plans for high blood pressure that include lifelong lifestyle changes and medicines to control high blood pressure; lifestyle changes such as weight loss can be highly effective in treating high blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent High Blood Pressure ? ### Response: Healthy lifestyle habits, proper use of medicines, and regular medical care can prevent high blood pressure or its complications. Preventing High Blood Pressure Onset Healthy lifestyle habits can help prevent high blood pressure from developing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metabolic Syndrome ? ### Response: Metabolicsyndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. The term ""metabolic"" refers to the biochemical processes involved in the body's normal functioning. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Metabolic Syndrome ? ### Response: Metabolic syndrome has several causes that act together. You can control some of the causes, such as overweight and obesity, an inactive lifestyle, and insulin resistance. You can't control other factors that may play a role in causing metabolic syndrome, such as growing older. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Metabolic Syndrome? ? ### Response: People at greatest risk for metabolic syndrome have these underlying causes: Abdominal obesity (a large waistline) An inactive lifestyle Insulin resistance Some people are at risk for metabolic syndrome because they take medicines that cause weight gain or changes in blood pressure, blood cholesterol, and blood sugar levels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metabolic Syndrome ? ### Response: Metabolic syndrome is a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. These risk factors can increase your risk for health problems even if they're only moderately raised (borderline-high risk factors). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Metabolic Syndrome ? ### Response: Your doctor will diagnose metabolic syndrome based on the results of a physical exam and blood tests. You must have at least three of the five metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Metabolic Syndrome ? ### Response: Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. Lifestyle changes include heart-healthy eating, losing and maintaining a healthy weight, managing stress, physical activity, and quittingsmoking. If lifestyle changes arent enough, your doctor may prescribe medicines. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Metabolic Syndrome ? ### Response: Making heart-healthy lifestyle choices is the best way to prevent metabolic syndrome by: Being physically active Following a heart-healthy eating plan Knowing your weight, waist measurement, and body mass index " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Attack ? ### Response: Espaol A heart attack happens when the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart cant get oxygen. If blood flow isnt restored quickly, the section of heart muscle begins to die. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Attack ? ### Response: Coronary Heart Disease A heart attack happens if the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart can't get oxygen. Most heart attacks occur as a result of coronary heart disease (CHD). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Attack? ? ### Response: Certain risk factors make it more likely that you'll develop coronary heart disease (CHD) and have a heart attack. You can control many of these risk factors. Risk Factors You Can Control The major risk factors for a heart attack that you can control include: " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Attack ? ### Response: Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies. In one study, for example, one-third of the patients who had heart attacks had no chest pain. These patients were more likely to be older, female, or diabetic. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Attack ? ### Response: Your doctor will diagnose a heart attack based on your signs and symptoms, your medical and family histories, and test results. Diagnostic Tests EKG (Electrocardiogram) An EKG is a simple, painless test that detects and records the heart's electrical activity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Attack ? ### Response: Early treatment for a heart attack can prevent or limit damage to the heart muscle. Acting fast, by calling 911 at the first symptoms of a heart attack, can save your life. Medical personnel can begin diagnosis and treatment even before you get to the hospital. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Heart Attack ? ### Response: Lowering your risk factors for coronary heart disease can help you prevent a heart attack. Even if you already have coronary heart disease, you still can take steps to lower your risk for a heart attack. These steps involve following a heart-healthy lifestyle and getting ongoingmedical care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pericarditis ? ### Response: Pericarditis (PER-i-kar-DI-tis) is a condition in which the membrane, or sac, around your heart is inflamed. This sac is called the pericardium (per-i-KAR-de-um). The pericardium holds the heart in place and helps it work properly. The sac is made of two thin layers of tissue that enclose your heart. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pericarditis ? ### Response: In many cases, the cause of pericarditis (both acute and chronic) is unknown. Viral infections are likely a common cause of pericarditis, although the virus may never be found. Pericarditis often occurs after a respiratory infection. Bacterial, fungal, and other infections also can cause pericarditis. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pericarditis? ? ### Response: Pericarditis occurs in people of all ages. However, men aged 20 to 50 are more likely to develop it than others. People who are treated for acute pericarditis may get it again. This may happen in 15 to 30 percent of people who have the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pericarditis ? ### Response: The most common sign of acute pericarditis is sharp, stabbing chest pain. The pain usually comes on quickly. It often is felt in the middle or left side of the chest or over the front of the chest. You also may feel pain in one or both shoulders, the neck, back, and abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pericarditis ? ### Response: Your doctor will diagnose pericarditis based on your medical history, a physical exam, and the results from tests. Specialists Involved Primary care doctorssuch as a family doctor, internist, or pediatricianoften diagnose and treat pericarditis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pericarditis ? ### Response: Most cases of pericarditis are mild; they clear up on their own or with rest and simple treatment. Other times, more intense treatment is needed to prevent complications. Treatment may include medicines and, less often, procedures or surgery. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Pericarditis ? ### Response: You usually can't prevent acute pericarditis. You can take steps to reduce your chance of having another acute episode, having complications, or getting chronic pericarditis. These steps include getting prompt treatment, following your treatment plan, and having ongoing medical care (as your doctor advises). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Obesity Hypoventilation Syndrome ? ### Response: Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Obesity Hypoventilation Syndrome ? ### Response: Obesity hypoventilation syndrome (OHS) is a breathing disorder that affects some obese people. Why these people develop OHS isn't fully known. Researchers think that several factors may work together to cause OHS. These factors include: A respiratory (RES-pih-rah-tor-e) system that has to work harder than normal and perhaps differently because of excess body weight. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Obesity Hypoventilation Syndrome? ? ### Response: People who are obese are at risk for obesity hypoventilation syndrome (OHS). ""Obesity"" refers to having too much body fat. People who are obese have body weight that's greater than what is considered healthy for a certain height. The most useful measure of obesity is body mass index (BMI). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Obesity Hypoventilation Syndrome ? ### Response: Many of the signs and symptoms of obesity hypoventilation syndrome (OHS) are the same as those of obstructive sleep apnea. This is because many people who have OHS also have obstructive sleep apnea. One of the most common signs of obstructive sleep apnea is loud and chronic (ongoing) snoring. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Obesity Hypoventilation Syndrome ? ### Response: Obesity hypoventilation syndrome (OHS) is diagnosed based on your medical history, signs and symptoms, and test results. Specialists Involved A critical care specialist, pulmonologist (lung specialist), and/or sleep specialist may diagnose and treat your condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Obesity Hypoventilation Syndrome ? ### Response: Treatments for obesity hypoventilation syndrome (OHS) include breathing support, weight loss, and medicines. The goals of treating OHS may include: Supporting and aiding your breathing Achieving major weight loss " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Obesity Hypoventilation Syndrome ? ### Response: You can prevent obesity hypoventilation syndrome (OHS) by maintaining a healthy weight. However, not everyone who is obese develops OHS. Researchers don't fully know why only some people who are obese develop the condition. Adopting healthy habits can help you maintain a healthy weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemolytic Anemia ? ### Response: Hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh) is a condition in which red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over. Red blood cells are disc-shaped and look like doughnuts without holes in the center. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemolytic Anemia ? ### Response: The immediate cause of hemolytic anemia is the early destruction of red blood cells. This means that red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over. Many diseases, conditions, and factors can cause the body to destroy its red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hemolytic Anemia? ? ### Response: Hemolytic anemia can affect people of all ages and races and both sexes. Some types of hemolytic anemia are more likely to occur in certain populations than others. For example, glucose-6-phosphate dehydrogenase (G6PD) deficiency mostly affects males of African or Mediterranean descent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemolytic Anemia ? ### Response: The signs and symptoms of hemolytic anemia will depend on the type and severity of the disease. People who have mild hemolytic anemia often have no signs or symptoms. More severe hemolytic anemia may cause many signs and symptoms, and they may be serious. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemolytic Anemia ? ### Response: Your doctor will diagnose hemolytic anemia based on your medical and family histories, a physical exam, and test results. Specialists Involved Primary care doctors, such as a family doctor or pediatrician, may help diagnose and treat hemolytic anemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemolytic Anemia ? ### Response: Treatments for hemolytic anemia include blood transfusions, medicines, plasmapheresis (PLAZ-meh-feh-RE-sis), surgery, blood and marrow stem cell transplants, and lifestyle changes. People who have mild hemolytic anemia may not need treatment, as long as the condition doesn't worsen. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hemolytic Anemia ? ### Response: You can't prevent inherited types of hemolytic anemia. One exception is glucose-6-phosphate dehydrogenase (G6PD) deficiency. If you're born with G6PD deficiency, you can avoid substances that may trigger the condition. For example, avoid fava beans, naphthalene (a substance found in some moth balls), and certain medicines (as your doctor advises). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thalassemias ? ### Response: Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. ""Inherited"" means that the disorder is passed from parents to children through genes. Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thalassemias ? ### Response: Your body makes three types of blood cells: red blood cells, white blood cells, and platelets (PLATE-lets). Red blood cells contain hemoglobin, an iron-rich protein that carries oxygen from your lungs to all parts of your body. Hemoglobin also carries carbon dioxide (a waste gas) from your body to your lungs, where it's exhaled. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Thalassemias? ? ### Response: Family history and ancestry are the two risk factors for thalassemias. Family History Thalassemias are inheritedthat is, the genes for the disorders are passed from parents to their children. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thalassemias ? ### Response: A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The lack of oxygen occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thalassemias ? ### Response: Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thalassemias ? ### Response: Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. Theyll likely need little or no treatment. Doctors use three standard treatments for moderate and severe forms of thalassemia. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Thalassemias ? ### Response: You cant prevent thalassemias because theyre inherited (passed from parents to children through genes). However, prenatal tests can detect these blood disorders before birth. Family genetic studies may help find out whether people have missing or altered hemoglobin genes that cause thalassemias. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fanconi Anemia ? ### Response: Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fanconi Anemia ? ### Response: Fanconi anemia (FA) is an inherited disease. The term inherited means that the disease is passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs when both parents pass the same faulty FA gene to their child. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Fanconi Anemia? ? ### Response: Fanconi anemia (FA) occurs in all racial and ethnic groups and affects men and women equally. In the United States, about 1 out of every 181 people is an FA carrier. This carrier rate leads to about 1 in 130,000 people being born with FA. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fanconi Anemia ? ### Response: Major Signs and Symptoms Your doctor may suspect you or your child has Fanconi anemia (FA) if you have signs and symptoms of: Anemia Bone marrow failure Birth defects Developmental or eating problems " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fanconi Anemia ? ### Response: People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fanconi Anemia ? ### Response: Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well the person's bone marrow is making new blood cells. Goals of Treatment Long-term treatments for FA can: Cure the anemia. Damaged bone marrow cells are replaced with healthy ones that can make enough of all three types of blood cells on their own. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Fanconi Anemia ? ### Response: ou can't prevent Fanconi anemia (FA) because it's an inherited disease. If a child gets two copies of the same faulty FA gene, he or she will have the disease. If you're at high risk for FA and are planning to have children, you may want to consider genetic counseling. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Atrial Fibrillation ? ### Response: Atrial fibrillation (A-tre-al fi-bri-LA-shun), or AF, is the most common type of arrhythmia (ah-RITH-me-ah). An arrhythmia is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Atrial Fibrillation ? ### Response: Atrial fibrillation (AF) occurs if the heart's electrical signals don't travel through the heart in a normal way. Instead, they become very rapid and disorganized. Damage to the heart's electrical system causes AF. The damage most often is the result of other conditions that affect the health of the heart, such as high blood pressure and coronary heart disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Atrial Fibrillation? ? ### Response: Atrial fibrillation (AF) affects millions of people, and the number is rising. Men are more likely than women to have the condition. In the United States, AF is more common among Whites than African Americans or Hispanic Americans. The risk of AF increases as you age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atrial Fibrillation ? ### Response: Atrial fibrillation (AF) usually causes the heart's lower chambers, the ventricles, to contract faster than normal. When this happens, the ventricles can't completely fill with blood. Thus, they may not be able to pump enough blood to the lungs and body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Atrial Fibrillation ? ### Response: Atrial fibrillation (AF) is diagnosed based on your medical and family histories, a physical exam, and the results from tests and procedures. Sometimes AF doesn't cause signs or symptoms. Thus, it may be found during a physical exam or EKG (electrocardiogram) test done for another purpose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Atrial Fibrillation ? ### Response: Treatment for atrial fibrillation (AF) depends on how often you have symptoms, how severe they are, and whether you already have heart disease. General treatment options include medicines, medical procedures, and lifestyle changes. Goals of Treatment " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Atrial Fibrillation ? ### Response: Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include: Following a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and vegetables daily. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Angina ? ### Response: Espaol Angina (an-JI-nuh or AN-juh-nuh) is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood. Angina may feel like pressure or squeezing in your chest. The pain also can occur in your shoulders, arms, neck, jaw, or back. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Angina ? ### Response: Underlying Causes Angina usually is a symptom of coronary heart disease (CHD). This means that the underlying causes of angina generally are the same as the underlying causes of CHD. Research suggests that CHD starts when certain factors damage the inner layers of the coronary arteries. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Angina? ? ### Response: Angina is a symptom of an underlying heart problem. Its usually a symptom of coronary heart disease (CHD), but it also can be a symptom of coronary microvascular disease (MVD). So, if youre at risk for CHD or coronary MVD, youre also at risk for angina. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Angina ? ### Response: Pain and discomfort are the main symptoms of angina. Angina often is described as pressure, squeezing, burning, or tightness in the chest. The pain or discomfort usually starts behind the breastbone. Pain from angina also can occur in the arms, shoulders, neck, jaw, throat, or back. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Angina ? ### Response: The most important issues to address when you go to the doctor with chest pain are: What's causing the chest pain Whether you're having or are about to have a heart attack Angina is a symptom of an underlying heart problem, usually coronary heart disease (CHD). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Angina ? ### Response: Treatments for angina include lifestyle changes, medicines, medical procedures, cardiac rehabilitation (rehab), and other therapies. The main goals of treatment are to: Reduce pain and discomfort and how often it occurs Prevent or lower your risk for heart attack and death by treating your underlying heart condition " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Angina ? ### Response: You can prevent or lower your risk for angina and heart disease by making lifestyle changes and treating related conditions. Making Lifestyle Changes Healthy lifestyle choices can help prevent or delay angina and heart disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Murmur ? ### Response: A heart murmur is an extra or unusual sound heard during a heartbeat. Murmurs range from very faint to very loud. Sometimes they sound like a whooshing or swishing noise. Normal heartbeats make a ""lub-DUPP"" or ""lub-DUB"" sound. This is the sound of the heart valves closing as blood moves through the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Murmur ? ### Response: Innocent Heart Murmurs Why some people have innocent heart murmurs and others do not isn't known. Innocent murmurs are simply sounds made by blood flowing through the heart's chambers and valves, or through blood vessels near the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Murmur ? ### Response: People who have innocent (harmless) heart murmurs don't have any signs or symptoms other than the murmur itself. This is because innocent heart murmurs aren't caused by heart problems. People who have abnormal heart murmurs may have signs or symptoms of the heart problems causing the murmurs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Murmur ? ### Response: Doctors use a stethoscope to listen to heart sounds and hear heart murmurs. They may detect heart murmurs during routine checkups or while checking for another condition. If a congenital heart defect causes a murmur, it's often heard at birth or during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Murmur ? ### Response: A heart murmur isn't a disease. It's an extra or unusual sound heard during the heartbeat. Thus, murmurs themselves don't require treatment. However, if an underlying condition is causing a heart murmur, your doctor may recommend treatment for that condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Block ? ### Response: Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. (""Rate"" refers to the number of times your heart beats per minute. ""Rhythm"" refers to the pattern of regular or irregular pulses produced as the heart beats. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Block ? ### Response: Heart block has many causes. Some people are born with the disorder (congenital), while others develop it during their lifetimes (acquired). Congenital Heart Block One form of congenital heart block occurs in babies whose mothers have autoimmune diseases, such as lupus. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Block? ? ### Response: The risk factors for congenital and acquired heart block are different. Congenital Heart Block If a pregnant woman has an autoimmune disease, such as lupus, her fetus is at risk for heart block. Autoimmune diseases can cause the body to make proteins called antibodies that can cross the placenta. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Block ? ### Response: Signs and symptoms depend on the type of heart block you have. First-degree heart block may not cause any symptoms. Signs and symptoms of second- and third-degree heart block include: Fainting Dizziness or light-headedness " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Block ? ### Response: Heart block might be diagnosed as part of a routine doctor's visit or during an emergency situation. (Third-degree heart block often is an emergency.) Your doctor will diagnose heart block based on your family and medical histories, a physical exam, and test results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Block ? ### Response: Treatment depends on the type of heart block you have. If you have first-degree heart block, you may not need treatment. If you have second-degree heart block, you may need a pacemaker. A pacemaker is a small device that's placed under the skin of your chest or abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asthma ? ### Response: Espaol Asthma (AZ-ma) is a chronic (long-term) lung disease that inflames and narrows the airways. Asthma causes recurring periods of wheezing (a whistling sound when you breathe), chest tightness, shortness of breath, and coughing. The coughing often occurs at night or early in the morning. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Asthma ? ### Response: The exact cause of asthma isn't known. Researchers think some genetic and environmental factors interact to cause asthma, most often early in life. These factors include: An inherited tendency to develop allergies, called atopy (AT-o-pe) " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Asthma? ? ### Response: Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 22 million people are known to have asthma. Nearly 6 million of these people are children. Young children who often wheeze and have respiratory infectionsas well as certain other risk factorsare at highest risk of developing asthma that continues beyond 6 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Asthma ? ### Response: Common signs and symptoms of asthma include: Coughing. Coughing from asthma often is worse at night or early in the morning, making it hard to sleep. Wheezing. Wheezing is a whistling or squeaky sound that occurs when you breathe. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Asthma ? ### Response: Your primary care doctor will diagnose asthma based on your medical and family histories, a physical exam, and test results. Your doctor also will figure out the severity of your asthmathat is, whether it's intermittent, mild, moderate, or severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Asthma ? ### Response: Asthma is a long-term disease that has no cure. The goal of asthma treatment is to control the disease. Good asthma control will: Prevent chronic and troublesome symptoms, such as coughing and shortness of breath Reduce your need for quick-relief medicines (see below) " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Asthma ? ### Response: You cant prevent asthma. However, you can take steps to control the disease and prevent its symptoms. For example: Learn about your asthma and ways to control it. Follow your written asthma action plan. (For a sample plan, go to the National Heart, Lung, and Blood Institute's ""Asthma Action Plan. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Patent Ductus Arteriosus ? ### Response: Patent ductus arteriosus (PDA) is a heart problem that occurs soon after birth in some babies. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. Before birth, the two major arteriesthe aorta and the pulmonary (PULL-mun-ary) arteryare connected by a blood vessel called the ductus arteriosus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Patent Ductus Arteriosus ? ### Response: If your child has patent ductus arteriosus (PDA), you may think you did something wrong during your pregnancy to cause the problem. However, the cause of patent ductus arteriosus isn't known. Genetics may play a role in causing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Patent Ductus Arteriosus? ? ### Response: Patent ductus arteriosus (PDA) is a relatively common congenital heart defect in the United States. The condition occurs more often in premature infants (on average, occurring in about 8 of every 1,000 births). However, PDA also occurs in full-term infants (on average, occurring in about 2 of every 1,000 births). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Patent Ductus Arteriosus ? ### Response: A heart murmur may be the only sign that a baby has patent ductus arteriosus (PDA). A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless. Some infants may develop signs or symptoms of volume overload on the heart and excess blood flow in the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Patent Ductus Arteriosus ? ### Response: In full-term infants, patent ductus arteriosus (PDA) usually is first suspected when the baby's doctor hears a heart murmur during a regular checkup. A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Patent Ductus Arteriosus ? ### Response: Patent ductus arteriosus (PDA) is treated with medicines, catheter-based procedures, and surgery. The goal of treatment is to close the PDA. Closure will help prevent complications and reverse the effects of increased blood volume. Small PDAs often close without treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sickle Cell Disease ? ### Response: Espaol The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sickle Cell Disease ? ### Response: Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD). The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Sickle Cell Disease? ? ### Response: In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black. About 1 in 13 African American babies is born with sickle cell trait. About 1 in every 365 black children is born with sickle cell disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sickle Cell Disease ? ### Response: Early Signs and Symptoms If a person has sickle cell disease (SCD), it is present at birth. But most infants do not have any problems from the disease until they are about 5 or 6 months of age. Every state in the United States, the District of Columbia, and the U. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Sickle Cell Disease ? ### Response: Screening Tests People who do not know whether they make sickle hemoglobin (hemoglobin S) or another abnormal hemoglobin (such as C, thalassemia, E) can find out by having their blood tested. This way, they can learn whether they carry a gene (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sickle Cell Disease ? ### Response: Health Maintenance To Prevent Complications Babies with sickle cell disease (SCD) should be referred to a doctor or provider group that has experience taking care of people with this disease. The doctor might be a hematologist (a doctor with special training in blood diseases) or an experienced general pediatrician, internist, or family practitioner. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Sickle Cell Disease ? ### Response: People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested. Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD) may want to meet with a genetics counselor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycythemia Vera ? ### Response: Polycythemia vera (POL-e-si-THEE-me-ah VAY-rah or VE-rah), or PV, is a rare blood disease in which your body makes too many red blood cells. The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Polycythemia Vera ? ### Response: Primary Polycythemia Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Polycythemia Vera ? ### Response: Primary Polycythemia Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycythemia Vera ? ### Response: Polycythemia vera (PV) develops slowly. The disease may not cause signs or symptoms for years. When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Polycythemia Vera ? ### Response: Polycythemia vera (PV) may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. If the results of your blood tests aren't normal, your doctor may want to do more tests. Your doctor will diagnose PV based on your signs and symptoms, your age and overall health, your medical history, a physical exam, and test results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Polycythemia Vera ? ### Response: Polycythemia vera (PV) doesn't have a cure. However, treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease. Goals of Treatment " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Polycythemia Vera ? ### Response: Primary polycythemia (polycythemia vera) can't be prevented. However, with proper treatment, you can prevent or delay symptoms and complications. Sometimes you can prevent secondary polycythemia by avoiding things that deprive your body of oxygen for long periods. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Cholesterol ? ### Response: To understand high blood cholesterol (ko-LES-ter-ol), it helps to learn about cholesterol. Cholesterol is a waxy, fat-like substance thats found in all cells of the body. Your body needs some cholesterol to make hormones, vitamin D, and substances that help you digest foods. " "Below is an instruction from Human. Write a response. ### Instruction: What causes High Blood Cholesterol ? ### Response: Many factors can affect the cholesterol levels in your blood. You can control some factors, but not others. Factors You Can Control Diet Cholesterol is found in foods that come from animal sources, such as egg yolks, meat, and cheese. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High Blood Cholesterol ? ### Response: High blood cholesterol usually has no signs or symptoms. Thus, many people don't know that their cholesterol levels are too high. If you're 20 years old or older, have your cholesterol levels checked at least once every 5 years. Talk with your doctor about how often you should be tested. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose High Blood Cholesterol ? ### Response: Your doctor will diagnose high blood cholesterol by checking the cholesterol levels in your blood. A blood test called a lipoprotein panel can measure your cholesterol levels. Before the test, youll need to fast (not eat or drink anything but water) for 9 to 12 hours. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for High Blood Cholesterol ? ### Response: High blood cholesterol is treated with lifestyle changes and medicines. The main goal of treatment is to lower your low-density lipoprotein (LDL) cholesterol level enough to reduce your risk for coronary heart disease, heart attack, and other related health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Valve Disease ? ### Response: Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral,and aortic valves. These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Valve Disease ? ### Response: Heart conditions and other disorders, age-related changes, rheumatic fever, or infections can cause acquired heart valve disease. These factors change the shape or flexibility of once-normal heart valves. The cause of congenital heart valve disease isnt known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Valve Disease ? ### Response: Major Signs and Symptoms The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. However, many people have heart murmurs without having heart valve disease or any other heart problems. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Valve Disease ? ### Response: Your primary care doctor may detect a heart murmur or other signs of heart valve disease. However, a cardiologist usually will diagnose the condition. A cardiologist is a doctor who specializes in diagnosing and treating heart problems. To diagnose heart valve disease, your doctor will ask about your signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Valve Disease ? ### Response: Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines often can treat symptoms successfully and delay problems for many years. Eventually, though, you may need surgery to repair or replace a faulty heart valve. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Heart Valve Disease ? ### Response: To prevent heart valve disease caused by rheumatic fever, see your doctor if you have signs of a strep infection. These signs include a painful sore throat, fever, and white spots on your tonsils. If you do have a strep infection, be sure to take all medicines prescribed to treat it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oxygen Therapy ? ### Response: Oxygen therapy is a treatment that provides you with extra oxygen, a gas that your body needs to work well. Normally, your lungs absorb oxygen from the air. However, some diseases and conditions can prevent you from getting enough oxygen. Oxygen therapy may help you function better and be more active. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Oxygen Therapy ? ### Response: During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away. Otherwise, your doctor will decide whether you need oxygen therapy based on test results. " "Below is an instruction from Human. Write a response. ### Instruction: What is the outlook for Oxygen Therapy ? ### Response: During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away. While you're in the hospital, your doctor will check on you to make sure you're getting the right amount of oxygen. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Oxygen Therapy? ? ### Response: Oxygen therapy can cause complications and side effects. These problems might include a dry or bloody nose, skin irritation from the nasal cannula or face mask, fatigue (tiredness), and morning headaches. If these problems persist, tell your doctor and home equipment provider. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Heart Disease ? ### Response: The term ""diabetic heart disease"" (DHD) refers to heart disease that develops in people who have diabetes. Compared with people who don't have diabetes, people who have diabetes: Are at higher risk for heart disease Have additional causes of heart disease " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diabetic Heart Disease ? ### Response: At least four complex processes, alone or combined, can lead to diabetic heart disease (DHD). They include coronary atherosclerosis; metabolic syndrome; insulin resistance in people who have type 2 diabetes; and the interaction of coronary heart disease (CHD), high blood pressure, and diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Diabetic Heart Disease? ? ### Response: People who have type 1 or type 2 diabetes are at risk for diabetic heart disease (DHD). Diabetes affects heart disease risk in three major ways. First, diabetes alone is a very serious risk factor for heart disease. Second, when combined with other risk factors, diabetes further raises the risk of heart disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic Heart Disease ? ### Response: Some people who have diabetic heart disease (DHD) may have no signs or symptoms of heart disease. This is called silent heart disease. Diabetes-related nerve damage that blunts heart pain may explain why symptoms aren't noticed. Thus, people who have diabetes should have regular medical checkups. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diabetic Heart Disease ? ### Response: Your doctor will diagnose diabetic heart disease (DHD) based on your signs and symptoms, medical and family histories, a physical exam, and the results from tests and procedures. Doctors and researchers are still trying to find out whether routine testing for DHD will benefit people who have diabetes but no heart disease symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic Heart Disease ? ### Response: Diabetic heart disease (DHD) is treated with lifestyle changes, medicines, and medical procedures. The goals of treating DHD include: Controlling diabetes and any other heart disease risk factors you have, such as unhealthy blood cholesterol levels and high blood pressure " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Diabetic Heart Disease ? ### Response: Taking action to control risk factors can help prevent or delay heart disease in people who have diabetes and in those who don't. Your risk of heart disease increases with the number of risk factors you have. One step you can take is to adopt a healthy lifestyle. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endocarditis ? ### Response: Endocarditis (EN-do-kar-DI-tis) is an infection of the inner lining of the heart chambers and valves. This lining is called the endocardium (en-do-KAR-de-um). The condition also is called infective endocarditis (IE). The term ""endocarditis"" also is used to describe an inflammation of the endocardium due to other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Endocarditis ? ### Response: Infective endocarditis (IE) occurs if bacteria, fungi, or other germs invade your bloodstream and attach to abnormal areas of your heart. Certain factors increase the risk of this happening. A common underlying factor in IE is a structural heart defect, especially faulty heart valves. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Endocarditis? ? ### Response: Infective endocarditis (IE) is an uncommon condition that can affect both children and adults. It's more common in men than women. IE typically affects people who have abnormal hearts or other conditions that put them at risk for the infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Endocarditis ? ### Response: Infective endocarditis (IE) can cause a range of signs and symptoms that can vary from person to person. Signs and symptoms also can vary over time in the same person. Signs and symptoms differ depending on whether you have an underlying heart problem, the type of germ causing the infection, and whether you have acute or subacute IE. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Endocarditis ? ### Response: Your doctor will diagnose infective endocarditis (IE) based on your risk factors, your medical history and signs and symptoms, and test results. Diagnosis of IE often is based on many factors, rather than a single positive test result, sign, or symptom. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Endocarditis ? ### Response: Infective endocarditis (IE) is treated with antibiotics and sometimes with heart surgery. Antibiotics Antibiotics usually are given for 2 to 6 weeks through an intravenous (IV) line inserted into a vein. You're often in a hospital for at least the first week or more of treatment. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Endocarditis ? ### Response: If you're at risk for infective endocarditis (IE), you can take steps to prevent the infection and its complications. Be alert to the signs and symptoms of IE. Contact your doctor right away if you have any of these signs or symptoms, especially a persistent fever or unexplained fatigue (tiredness). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemophilia ? ### Response: Espaol Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemophilia ? ### Response: A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes (KRO-muh-somz). Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemophilia ? ### Response: The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. Excessive Bleeding The extent of bleeding depends on how severe the hemophilia is. Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemophilia ? ### Response: If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemophilia ? ### Response: Treatment With Replacement Therapy The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pleurisy and Other Pleural Disorders ? ### Response: Pleurisy (PLUR-ih-se) is a condition in which the pleura is inflamed. The pleura is a membrane that consists of two large, thin layers of tissue. One layer wraps around the outside of your lungs. The other layer lines the inside of your chest cavity. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pleurisy and Other Pleural Disorders ? ### Response: Pleurisy Many conditions can cause pleurisy. Viral infections are likely the most common cause. Other causes of pleurisy include: Bacterial infections, such as pneumonia (nu-MO-ne-ah) and tuberculosis, and infections from fungi or parasites " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pleurisy and Other Pleural Disorders ? ### Response: Pleurisy The main symptom of pleurisy is a sharp or stabbing pain in your chest that gets worse when you breathe in deeply or cough or sneeze. The pain may stay in one place or it may spread to your shoulders or back. Sometimes the pain becomes a fairly constant dull ache. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pleurisy and Other Pleural Disorders ? ### Response: Your doctor will diagnose pleurisy or another pleural disorder based on your medical history, a physical exam, and test results. Your doctor will want to rule out other causes of your symptoms. He or she also will want to find the underlying cause of the pleurisy or other pleural disorder so it can be treated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pleurisy and Other Pleural Disorders ? ### Response: Pleurisy and other pleural disorders are treated with procedures, medicines, and other methods. The goals of treatment include: Relieving symptoms Removing the fluid, air, or blood from the pleural space (if a large amount is present) " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thrombocythemia and Thrombocytosis ? ### Response: Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a higher than normal number of platelets (PLATE-lets). Platelets are blood cell fragments. They're made in your bone marrow along with other kinds of blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thrombocythemia and Thrombocytosis ? ### Response: Primary Thrombocythemia In this condition, faulty stem cells in the bone marrow make too many platelets. What causes this to happen usually isn't known. When this process occurs without other blood cell disorders, it's called essential thrombocythemia. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Thrombocythemia and Thrombocytosis? ? ### Response: Primary Thrombocythemia Thrombocythemia isn't common. The exact number of people who have the condition isn't known. Some estimates suggest that 24 out of every 100,000 people have primary thrombocythemia. Primary thrombocythemia is more common in people aged 50 to 70, but it can occur at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thrombocythemia and Thrombocytosis ? ### Response: People who have thrombocythemia or thrombocytosis may not have signs or symptoms. These conditions might be discovered only after routine blood tests. However, people who have primary thrombocythemia are more likely than those who have secondary thrombocytosis to have serious signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thrombocythemia and Thrombocytosis ? ### Response: Your doctor will diagnose thrombocythemia or thrombocytosis based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in blood diseases and conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thrombocythemia and Thrombocytosis ? ### Response: Primary Thrombocythemia This condition is considered less harmful today than in the past, and its outlook often is good. People who have no signs or symptoms don't need treatment, as long as the condition remains stable. Taking aspirin may help people who are at risk for blood clots (aspirin thins the blood). " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Thrombocythemia and Thrombocytosis ? ### Response: You can't prevent primary thrombocythemia. However, you can take steps to reduce your risk for complications. For example, you can control many of the risk factors for blood clots, such as high blood cholesterol, high blood pressure, diabetes, and smoking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemochromatosis ? ### Response: Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods. Too much iron is toxic to your body. It can poison your organs and cause organ failure. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemochromatosis ? ### Response: The two types of hemochromatosis are primary and secondary. Each type has a different cause. Primary Hemochromatosis Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Hemochromatosis? ? ### Response: Hemochromatosis is one of the most common genetic diseases in the United States. It's most common in Caucasians of Northern European descent. The disease is less common in African Americans, Hispanics, Asians, and American Indians. Primary hemochromatosis is more common in men than in women. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemochromatosis ? ### Response: Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases. Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue (tiredness). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemochromatosis ? ### Response: Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. The disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes, heart disease, or erectile dysfunction (impotence). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemochromatosis ? ### Response: Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications. The goals of treating hemochromatosis include: Reducing the amount of iron in your body to normal levels " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Hemochromatosis ? ### Response: You can't prevent primary, or inherited, hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. In those who do, treatments can keep the disease from getting worse. Treatments include therapeutic phlebotomy, iron chelation therapy, dietary changes, and other treatments. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cough ? ### Response: A cough is a natural reflex that protects your lungs. Coughing helps clear your airways of lung irritants, such as smoke and mucus (a slimy substance). This helps prevent infections. A cough also can be a symptom of a medical problem. Prolonged coughing can cause unpleasant side effects, such as chest pain, exhaustion, light-headedness, and loss of bladder control. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cough ? ### Response: Coughing occurs when the nerve endings in your airways become irritated. Certain irritants and allergens, medical conditions, and medicines can irritate these nerve endings. Irritants and Allergens An irritant is something you're sensitive to. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cough? ? ### Response: People at risk for cough include those who: Are exposed to things that irritate their airways (called irritants) or things that they're allergic to (called allergens). Examples of irritants are cigarette smoke, air pollution, paint fumes, and scented products. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cough ? ### Response: When you cough, mucus (a slimy substance) may come up. Coughing helps clear the mucus in your airways from a cold, bronchitis, or other condition. Rarely, people cough up blood. If this happens, you should call your doctor right away. A cough may be a symptom of a medical condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cough ? ### Response: Your doctor will diagnose the cause of your cough based on your medical history, a physical exam, and test results. Medical History Your doctor will likely ask questions about your cough. He or she may ask how long you've had it, whether you're coughing anything up (such as mucus, a slimy substance), and how much you cough. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cough ? ### Response: The best way to treat a cough is to treat its cause. However, sometimes the cause is unknown. Other treatments, such as medicines and a vaporizer, can help relieve the cough itself. Treating the Cause of a Cough Acute and Subacute Cough " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pulmonary Embolism ? ### Response: Major Causes Pulmonary embolism (PE) usually begins as a blood clot in a deep vein of the leg. This condition is called deep vein thrombosis. The clot can break free, travel through the bloodstream to the lungs, and block an artery. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pulmonary Embolism? ? ### Response: Pulmonary embolism (PE) occurs equally in men and women. The risk increases with age. For every 10 years after age 60, the risk of having PE doubles. Certain inherited conditions, such as factor V Leiden, increase the risk of blood clotting and PE. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary Embolism ? ### Response: Major Signs and Symptoms Signs and symptoms of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing, or coughing up blood. An arrhythmia (irregular heartbeat) also may suggest that you have PE. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pulmonary Embolism ? ### Response: Pulmonary embolism (PE) is diagnosed based on your medical history, a physical exam, and test results. Doctors who treat patients in the emergency room often are the ones to diagnose PE with the help of a radiologist. A radiologist is a doctor who deals with x rays and other similar tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pulmonary Embolism ? ### Response: Pulmonary embolism (PE) is treated with medicines, procedures, and other therapies. The main goals of treating PE are to stop the blood clot from getting bigger and keep new clots from forming. Treatment may include medicines to thin the blood and slow its ability to clot. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Pulmonary Embolism ? ### Response: Preventing pulmonary embolism (PE) begins with preventing deep vein thrombosis (DVT). Knowing whether you're at risk for DVT and taking steps to lower your risk are important. Exercise your lower leg muscles if you're sitting for a long time while traveling. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aneurysm ? ### Response: An aneurysm (AN-u-rism) is a balloon-like bulge in an artery. Arteries are blood vessels that carry oxygen-rich blood to your body. Arteries have thick walls to withstand normal blood pressure. However, certain medical problems, genetic conditions, and trauma can damage or injure artery walls. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Aneurysm ? ### Response: The force of blood pushing against the walls of an artery combined with damage or injury to the arterys walls can cause an aneurysm. Many conditions and factors can damage and weaken the walls of the aorta and cause aortic aneurysms. Examples include aging, smoking, high blood pressure, and atherosclerosis (ath-er-o-skler-O-sis). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Aneurysm? ? ### Response: Certain factors put you at higher risk for an aortic aneurysm. These factors include: Male gender. Men are more likely than women to have aortic aneurysms. Age. The risk for abdominal aortic aneurysms increases as you get older. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aneurysm ? ### Response: The signs and symptoms of an aortic aneurysm depend on the type and location of the aneurysm. Signs and symptoms also depend on whether the aneurysm has ruptured (burst) or is affecting other parts of the body. Aneurysms can develop and grow for years without causing any signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Aneurysm ? ### Response: If you have an aortic aneurysm but no symptoms, your doctor may find it by chance during a routine physical exam. More often, doctors find aneurysms during tests done for other reasons, such as chest or abdominal pain. If you have an abdominal aortic aneurysm (AAA), your doctor may feel a throbbing mass in your abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aneurysm ? ### Response: Aortic aneurysms are treated with medicines and surgery. Small aneurysms that are found early and arent causing symptoms may not need treatment. Other aneurysms need to be treated. The goals of treatment may include: Preventing the aneurysm from growing " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Aneurysm ? ### Response: The best way to prevent an aortic aneurysm is to avoid the factors that put you at higher risk for one. You cant control all aortic aneurysm risk factors, but lifestyle changes can help you lower some risks. For example, if you smoke, try to quit. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary Hypertension ? ### Response: Pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), or PH, is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen. PH causes symptoms such as shortness of breath during routine activity (for example, climbing two flights of stairs), tiredness, chest pain, and a racing heartbeat. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pulmonary Hypertension ? ### Response: Pulmonary hypertension (PH) begins with inflammation and changes in the cells that line your pulmonary arteries. Other factors also can affect the pulmonary arteries and cause PH. For example, the condition may develop if: The walls of the arteries tighten. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Pulmonary Hypertension? ? ### Response: The exact number of people who have pulmonary hypertension (PH) isn't known. Group 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary Hypertension ? ### Response: Signs and symptoms of pulmonary hypertension (PH) may include: Shortness of breath during routine activity, such as climbing two flights of stairs Tiredness Chest pain A racing heartbeat " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pulmonary Hypertension ? ### Response: Your doctor will diagnose pulmonary hypertension (PH) based on your medical and family histories, a physical exam, and the results from tests and procedures. PH can develop slowly. In fact, you may have it for years and not know it. This is because the condition has no early signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pulmonary Hypertension ? ### Response: Pulmonary hypertension (PH) has no cure. However, treatment may help relieve symptoms and slow the progress of the disease. PH is treated with medicines, procedures, and other therapies. Treatment will depend on what type of PH you have and its severity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Deep Vein Thrombosis ? ### Response: Espaol Deep vein thrombosis (throm-BO-sis), or DVT, is a blood clot that forms in a vein deep in the body. Blood clots occur when blood thickens and clumps together. Most deep vein blood clots occur in the lower leg or thigh. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Deep Vein Thrombosis ? ### Response: Blood clots can form in your body's deep veins if: A vein's inner lining is damaged. Injuries caused by physical, chemical, or biological factors can damage the veins. Such factors include surgery, serious injuries, inflammation, and immune responses. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Deep Vein Thrombosis? ? ### Response: The risk factors for deep vein thrombosis (DVT) include: A history of DVT. Conditions or factors that make your blood thicker or more likely to clot than normal. Some inherited blood disorders (such as factor V Leiden) will do this. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deep Vein Thrombosis ? ### Response: The signs and symptoms of deep vein thrombosis (DVT) might be related to DVT itself or pulmonary embolism (PE). See your doctor right away if you have signs or symptoms of either condition. Both DVT and PE can cause serious, possibly life-threatening problems if not treated. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Deep Vein Thrombosis ? ### Response: Your doctor will diagnose deep vein thrombosis (DVT) based on your medical history, a physical exam, and test results. He or she will identify your risk factors and rule out other causes of your symptoms. For some people, DVT might not be diagnosed until after they receive emergency treatment for pulmonary embolism (PE). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Deep Vein Thrombosis ? ### Response: Doctors treat deep vein thrombosis (DVT) with medicines and other devices and therapies. The main goals of treating DVT are to: Stop the blood clot from getting bigger Prevent the blood clot from breaking off and moving to your lungs " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Deep Vein Thrombosis ? ### Response: You can take steps to prevent deep vein thrombosis (DVT) and pulmonary embolism (PE). If you're at risk for these conditions: See your doctor for regular checkups. Take all medicines as your doctor prescribes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Palpitations ? ### Response: Palpitations (pal-pi-TA-shuns) are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast. You may have these feelings in your chest, throat, or neck. They can occur during activity or even when you're sitting still or lying down. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Heart Palpitations ? ### Response: Many things can cause palpitations. You may have these feelings even when your heart is beating normally or somewhat faster than normal. Most palpitations are harmless and often go away on their own. However, some palpitations are signs of a heart problem. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Heart Palpitations? ? ### Response: Some people may be more likely than others to have palpitations. People at increased risk include those who: Have anxiety or panic attacks, or people who are highly stressed Take certain medicines or stimulants " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart Palpitations ? ### Response: Symptoms of palpitations include feelings that your heart is: Skipping a beat Fluttering Beating too hard or too fast You may have these feelings in your chest, throat, or neck. They can occur during activity or even when you're sitting still or lying down. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Heart Palpitations ? ### Response: First, your doctor will want to find out whether your palpitations are harmless or related to a heart problem. He or she will ask about your symptoms and medical history, do a physical exam, and recommend several basic tests. This information may point to a heart problem as the cause of your palpitations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Heart Palpitations ? ### Response: Treatment for palpitations depends on their cause. Most palpitations are harmless and often go away on their own. In these cases, no treatment is needed. Avoiding Triggers Your palpitations may be harmless but bothersome. If so, your doctor may suggest avoiding things that trigger them. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Heart Palpitations ? ### Response: You can take steps to prevent palpitations. Try to avoid things that trigger them. For example: Reduce anxiety and stress. Anxiety and stress (including panic attacks) are a common cause of harmless palpitations. Relaxation exercises, yoga or tai chi, biofeedback or guided imagery, or aromatherapy may help you relax. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bronchopulmonary Dysplasia ? ### Response: Bronchopulmonary (BRONG-ko-PUL-mo-NAR-e) dysplasia (dis-PLA-ze-ah), or BPD, is a serious lung condition that affects infants. BPD mostly affects premature infants who need oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bronchopulmonary Dysplasia ? ### Response: Bronchopulmonary dysplasia (BPD) develops as a result of an infant's lungs becoming irritated or inflamed. The lungs of premature infants are fragile and often aren't fully developed. They can easily be irritated or injured within hours or days of birth. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Bronchopulmonary Dysplasia? ? ### Response: The more premature an infant is and the lower his or her birth weight, the greater the risk of bronchopulmonary dysplasia (BPD). Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds (about 1,000 grams) at birth, and have breathing problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bronchopulmonary Dysplasia ? ### Response: Many babies who develop bronchopulmonary dysplasia (BPD) are born with serious respiratory distress syndrome (RDS). The signs and symptoms of RDS at birth are: Rapid, shallow breathing Sharp pulling in of the chest below and between the ribs with each breath " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Bronchopulmonary Dysplasia ? ### Response: Infants who are born earlyusually more than 10 weeks before their due datesand still need oxygen therapy by the time they reach their original due dates are diagnosed with bronchopulmonary dysplasia (BPD). BPD can be mild, moderate, or severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bronchopulmonary Dysplasia ? ### Response: Preventive Measures If your doctor thinks you're going to give birth too early, he or she may give you injections of a corticosteroid medicine. The medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Bronchopulmonary Dysplasia ? ### Response: Taking steps to ensure a healthy pregnancy might prevent your infant from being born before his or her lungs have fully developed. These steps include: Seeing your doctor regularly during your pregnancy Following a healthy diet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cardiomyopathy ? ### Response: Cardiomyopathy refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms, and treatments. In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. In rare cases, the muscle tissue in the heart is replaced with scar tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cardiomyopathy ? ### Response: Cardiomyopathy can be acquired or inherited. Acquired means you arent born with the disease, but you develop it due to another disease, condition, or factor. Inherited means your parents passed the gene for the disease on to you. Researchers continue to look for the genetic links to cardiomyopathy and to explore how these links cause or contribute to the various types of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Cardiomyopathy? ? ### Response: People of all ages and races can have cardiomyopathy. However, certain types of the disease are more common in certain groups. Dilated cardiomyopathy is more common in African Americans than Whites. This type of the disease also is more common in men than women. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardiomyopathy ? ### Response: Some people who have cardiomyopathy never have signs or symptoms. Others don't have signs or symptoms in the early stages of the disease. As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. These signs and symptoms include: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cardiomyopathy ? ### Response: Your doctor will diagnose cardiomyopathy based on your medical and family histories, a physical exam, and the results from tests and procedures. Specialists Involved Often, a cardiologist or pediatric cardiologist diagnoses and treats cardiomyopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cardiomyopathy ? ### Response: People who have cardiomyopathy but no signs or symptoms may not need treatment. Sometimes, dilated cardiomyopathy that comes on suddenly may go away on its own. For other people who have cardiomyopathy, treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Cardiomyopathy ? ### Response: You can't prevent inherited types of cardiomyopathy. However, you can take steps to lower your risk for diseases or conditions that may lead to or complicate cardiomyopathy. Examples includecoronary heart disease,high blood pressure, andheart attack. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aplastic Anemia ? ### Response: Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is a blood disorder in which the body's bone marrow doesn't make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones. It makes stem cells that develop into red blood cells, white blood cells, and platelets (PLATE-lets). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Aplastic Anemia ? ### Response: Damage to the bone marrow's stem cells causes aplastic anemia. When stem cells are damaged, they don't grow into healthy blood cells. The cause of the damage can be acquired or inherited. ""Acquired"" means you aren't born with the condition, but you develop it. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Aplastic Anemia? ? ### Response: Aplastic anemia is a rare but serious blood disorder. People of all ages can develop aplastic anemia. However, it's most common in adolescents, young adults, and the elderly. Men and women are equally likely to have it. The disorder is two to three times more common in Asian countries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aplastic Anemia ? ### Response: Lower than normal numbers of red blood cells, white blood cells, and platelets cause most of the signs and symptoms of aplastic anemia. Signs and Symptoms of Low Blood Cell Counts Red Blood Cells " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Aplastic Anemia ? ### Response: Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aplastic Anemia ? ### Response: Treatments for aplastic anemia include blood transfusions, blood and marrow stem cell transplants, and medicines. These treatments can prevent or limit complications, relieve symptoms, and improve quality of life. Blood and marrow stem cell transplants may cure the disorder in some people who are eligible for a transplant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Iron-Deficiency Anemia ? ### Response: Espaol Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from food. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Iron-Deficiency Anemia ? ### Response: Not having enough iron in your body causes iron-deficiency anemia. Lack of iron usually is due to blood loss, poor diet, or an inability to absorb enough iron from food. Blood Loss When you lose blood, you lose iron. If you don't have enough iron stored in your body to make up for the lost iron, you'll develop iron-deficiency anemia. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Iron-Deficiency Anemia? ? ### Response: Infants and Young Children Infants and young children need a lot of iron to grow and develop. The iron that full-term infants have stored in their bodies is used up in the first 4 to 6 months of life. Premature and low-birth-weight babies (weighing less than 5. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Iron-Deficiency Anemia ? ### Response: The signs and symptoms of iron-deficiency anemia depend on its severity. Mild to moderate iron-deficiency anemia may have no signs or symptoms. When signs and symptoms do occur, they can range from mild to severe. Many of the signs and symptoms of iron-deficiency anemia apply to all types of anemia. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Iron-Deficiency Anemia ? ### Response: Your doctor will diagnose iron-deficiency anemia based on your medical history, a physical exam, and the results from tests and procedures. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Iron-Deficiency Anemia ? ### Response: Treatment for iron-deficiency anemia will depend on its cause and severity. Treatments may include dietary changes and supplements, medicines, and surgery. Severe iron-deficiency anemia may require a blood transfusion, iron injections, or intravenous (IV) iron therapy. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Iron-Deficiency Anemia ? ### Response: Eating a well-balanced diet that includes iron-rich foods may help you prevent iron-deficiency anemia. Taking iron supplements also may lower your risk for the condition if you're not able to get enough iron from food. Large amounts of iron can be harmful, so take iron supplements only as your doctor prescribes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Antiphospholipid Antibody Syndrome ? ### Response: Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body's immune system makes antibodies that attack and damage tissues or cells. Antibodies are a type of protein. They usually help defend the body against infections. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Antiphospholipid Antibody Syndrome ? ### Response: Antiphospholipid antibody syndrome (APS) occurs if the body's immune system makes antibodies (proteins) that attack phospholipids. Phospholipids are a type of fat found in all living cells and cell membranes, including blood cells and the lining of blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Antiphospholipid Antibody Syndrome? ? ### Response: Antiphospholipid antibody syndrome (APS) can affect people of any age. The disorder is more common in women than men, but it affects both sexes. APS also is more common in people who have other autoimmune or rheumatic disorders, such as lupus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Antiphospholipid Antibody Syndrome ? ### Response: The signs and symptoms of antiphospholipid antibody syndrome (APS) are related to abnormal blood clotting. The outcome of a blood clot depends on its size and location. Blood clots can form in, or travel to, the arteries or veins in the brain, heart, kidneys, lungs, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Antiphospholipid Antibody Syndrome ? ### Response: Your doctor will diagnose antiphospholipid antibody syndrome (APS) based on your medical history and the results from blood tests. Specialists Involved A hematologist often is involved in the care of people who have APS. This is a doctor who specializes in diagnosing and treating blood diseases and disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Antiphospholipid Antibody Syndrome ? ### Response: Antiphospholipid antibody syndrome (APS) has no cure. However, medicines can help prevent complications. The goals of treatment are to prevent blood clots from forming and keep existing clots from getting larger. You may have APS and another autoimmune disorder, such as lupus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marfan Syndrome ? ### Response: Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Marfan Syndrome ? ### Response: Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. Most people who have Marfan syndrome inherit it from their parents. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Marfan Syndrome? ? ### Response: People at highest risk for Marfan syndrome are those who have a family history of the condition. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. Marfan syndrome affects about 1 out of every 5,000 people in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marfan Syndrome ? ### Response: Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family. Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Marfan Syndrome ? ### Response: Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and test results. He or she also will consult a set of guidelines called Ghent criteria, which are used to diagnose Marfan syndrome. Marfan syndrome can be hard to diagnose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Marfan Syndrome ? ### Response: Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early. Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Respiratory Failure ? ### Response: Respiratory (RES-pih-rah-tor-e) failure is a condition in which not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. Respiratory failure also can occur if your lungs can't properly remove carbon dioxide (a waste gas) from your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Respiratory Failure ? ### Response: Diseases and conditions that impair breathing can cause respiratory failure. These disorders may affect the muscles, nerves, bones, or tissues that support breathing, or they may affect the lungs directly. When breathing is impaired, your lungs can't easily move oxygen into your blood and remove carbon dioxide from your blood (gas exchange). " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Respiratory Failure? ? ### Response: People who have diseases or conditions that affect the muscles, nerves, bones, or tissues that support breathing are at risk for respiratory failure. People who have lung diseases or conditions also are at risk for respiratory failure. For more information, " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Respiratory Failure ? ### Response: The signs and symptoms of respiratory failure depend on its underlying cause and the levels of oxygen and carbon dioxide in the blood. A low oxygen level in the blood can cause shortness of breath and air hunger (feeling like you can't breathe in enough air). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Respiratory Failure ? ### Response: Your doctor will diagnose respiratory failure based on your medical history, a physical exam, and test results. Once respiratory failure is diagnosed, your doctor will look for its underlying cause. Medical History Your doctor will ask whether you might have or have recently had diseases or conditions that could lead to respiratory failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Respiratory Failure ? ### Response: Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and its severity. Treatment also depends on the condition's underlying cause. Acute respiratory failure can be a medical emergency. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic Pulmonary Fibrosis ? ### Response: Pulmonary fibrosis (PULL-mun-ary fi-BRO-sis) is a disease in which tissue deep in your lungs becomes thick and stiff, or scarred, over time. The formation of scar tissue is called fibrosis. As the lung tissue thickens, your lungs can't properly move oxygen into your bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Idiopathic Pulmonary Fibrosis ? ### Response: Sometimes doctors can find out what is causing pulmonary fibrosis (lung scarring). For example, exposure to environmental pollutants and certain medicines can cause the disease. Environmental pollutants include inorganic dust (silica and hard metal dusts) and organic dust (bacteria and animal proteins). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic Pulmonary Fibrosis ? ### Response: The signs and symptoms of idiopathic pulmonary fibrosis (IPF) develop over time. They may not even begin to appear until the disease has done serious damage to your lungs. Once they occur, they're likely to get worse over time. The most common signs and symptoms are: " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Idiopathic Pulmonary Fibrosis ? ### Response: Idiopathic pulmonary fibrosis (IPF) causes the same kind of scarring and symptoms as some other lung diseases. This makes it hard to diagnose. Seeking medical help as soon as you have symptoms is important. If possible, seek care from a pulmonologist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Idiopathic Pulmonary Fibrosis ? ### Response: Doctors may prescribe medicines, oxygen therapy, pulmonary rehabilitation (PR), and lung transplant to treat idiopathic pulmonary fibrosis (IPF). Medicines Currently, no medicines are proven to slow the progression of IPF. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: A stroke occurs if the flow of oxygen-rich blood to a portion of the brain is blocked. Without oxygen, brain cells start to die after a few minutes. Sudden bleeding in the brain also can cause a stroke if it damages brain cells. If brain cells die or are damaged because of a stroke, symptoms occur in the parts of the body that these brain cells control. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Stroke ? ### Response: Ischemic Stroke and Transient Ischemic Attack An ischemic stroke or transient ischemic attack (TIA) occurs if an artery that supplies oxygen-rich blood to the brain becomes blocked. Many medical conditions can increase the risk of ischemic stroke or TIA. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for Stroke? ? ### Response: Certain traits, conditions, and habits can raise your risk of having a stroke or transient ischemic attack (TIA). These traits, conditions, and habits are known as risk factors. The more risk factors you have, the more likely you are to have a stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stroke ? ### Response: The signs and symptoms of a stroke often develop quickly. However, they can develop over hours or even days. The type of symptoms depends on the type of stroke and the area of the brain thats affected. How long symptoms last and how severe they are vary among different people. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Stroke ? ### Response: Your doctor will diagnose a stroke based on your signs and symptoms, your medical history, a physical exam, and test results. Your doctor will want to find out the type of stroke youve had, its cause, the part of the brain that's affected, and whether you have bleeding in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stroke ? ### Response: Treatment for a stroke depends on whether it is ischemic or hemorrhagic. Treatment for a transient ischemic attack (TIA) depends on its cause, how much time has passed since symptoms began, and whether you have other medical conditions. Strokes and TIAs are medical emergencies. " "Below is an instruction from Human. Write a response. ### Instruction: How to prevent Stroke ? ### Response: Taking action to control your risk factors can help prevent or delay a stroke. If youve already had a stroke, these actions can help prevent another one. Be physically active. Physical activity can improve your fitness level and health. Talk with your doctor about what types and amounts of activity are safe for you. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ARDS ? ### Response: ARDS, or acute respiratory distress syndrome, is a lung condition that leads to low oxygen levels in the blood. ARDS can be life threatening because your body's organs need oxygen-rich blood to work well. People who develop ARDS often are very ill with another disease or have major injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What causes ARDS ? ### Response: Many conditions or factors can directly or indirectly injure the lungs and lead to ARDS. Some common ones are: Sepsis. This is a condition in which bacteria infect the bloodstream. Pneumonia. This is an infection in the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: Who is at risk for ARDS? ? ### Response: People at risk for ARDS have a condition or illness that can directly or indirectly injure their lungs. Direct Lung Injury Conditions that can directly injure the lungs include: Pneumonia. This is an infection in the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ARDS ? ### Response: The first signs and symptoms of ARDS are feeling like you can't get enough air into your lungs, rapid breathing, and a low blood oxygen level. Other signs and symptoms depend on the cause of ARDS. They may occur before ARDS develops. For example, if pneumonia is causing ARDS, you may have a cough and fever before you feel short of breath. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose ARDS ? ### Response: Your doctor will diagnose ARDS based on your medical history, a physical exam, and test results. Medical History Your doctor will ask whether you have or have recently had conditions that could lead to ARDS. For a list of these conditions, go to ""Who Is at Risk for ARDS?"" " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ARDS ? ### Response: ARDS is treated in a hospital's intensive care unit. Current treatment approaches focus on improving blood oxygen levels and providing supportive care. Doctors also will try to pinpoint and treat the underlying cause of the condition. Oxygen Therapy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dementia ? ### Response: Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bone Diseases ? ### Response: Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Postpartum Depression ? ### Response: Many women have the baby blues after childbirth. If you have the baby blues, you may have mood swings, feel sad, anxious or overwhelmed, have crying spells, lose your appetite, or have trouble sleeping. The baby blues most often go away within a few days or a week. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coronary Artery Disease ? ### Response: Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause of death in the United States in both men and women. CAD happens when the arteries that supply blood to heart muscle become hardened and narrowed. This is due to the buildup of cholesterol and other material, called plaque, on their inner walls. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bone Cancer ? ### Response: Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another part of the body is more common. There are three types of bone cancer: - Osteosarcoma - occurs most often between ages 10 and 19. It is more common in the knee and upper arm. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jaw Injuries and Disorders ? ### Response: Your jaw is a set of bones that holds your teeth. It consists of two main parts. The upper part is the maxilla. It doesn't move. The moveable lower part is called the mandible. You move it when you talk or chew. The two halves of the mandible meet at your chin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sexual Assault ? ### Response: Sexual assault is any sexual activity to which you haven't freely given your consent. This includes completed or attempted sex acts that are against your will. Sometimes it can involve a victim who is unable to consent. It also includes abusive sexual contact. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Sexual Health ### Response: Summary : Sexuality is a big part of being human. Love, affection and sexual intimacy all play a role in healthy relationships. They also contribute to your sense of well-being. A number of disorders can affect the ability to have or enjoy sex in both men and women. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) HIV/AIDS ? ### Response: HIV stands for human immunodeficiency virus. It kills or damages the body's immune system cells. AIDS stands for acquired immunodeficiency syndrome. It is the most advanced stage of infection with HIV. HIV most often spreads through unprotected sex with an infected person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperglycemia ? ### Response: Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asthma ? ### Response: Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pneumocystis Infections ? ### Response: Pneumocystis jirovec is a tiny fungus that lives in the lungs of many people. Most people's immune systems keep the fungus under control. But if your immune system is weak, the fungus can make you very sick. The most common problem of infection is pneumocystis pneumonia (PCP). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brain Malformations ? ### Response: Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Phobias ? ### Response: A phobia is a type of anxiety disorder. It is a strong, irrational fear of something that poses little or no real danger. There are many specific phobias. Acrophobia is a fear of heights. Agoraphobia is a fear of public places, and claustrophobia is a fear of closed-in places. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Steroids ### Response: Summary : You may have heard of anabolic steroids, which can have harmful effects. But there's another type of steroid - sometimes called a corticosteroid - that treats a variety of problems. These steroids are similar to hormones that your adrenal glands make to fight stress associated with illnesses and injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dehydration ? ### Response: When you're dehydrated, your body doesn't have enough fluid to work properly. An average person on an average day needs about 3 quarts of water. But if you're out in the hot sun, you'll need a lot more than that. Most healthy bodies are very good at regulating water. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Sports Safety ### Response: Summary : Playing sports can be fun, but it can also be dangerous if you are not careful. You can help prevent injuries by - Getting a physical to make sure you are healthy before you start playing your sport - Wearing the right shoes, gear, and equipment - Drinking lots of water - Warming up and stretching If you have already hurt yourself playing a sport, make sure you recover completely before you start up again. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bowel Incontinence ? ### Response: Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vasculitis ? ### Response: Vasculitis is an inflammation of the blood vessels. It happens when the body's immune system attacks the blood vessel by mistake. It can happen because of an infection, a medicine, or another disease. The cause is often unknown. Vasculitis can affect arteries, veins and capillaries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brain Diseases ? ### Response: The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Sports Fitness ### Response: Summary : Sports can be a great way to get in shape or stay that way. Having a specific goal can be a great motivator. Physically, you need strength and endurance. Your training will vary with your sport. You would not train the same way for pole vaulting as for swimming. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heartburn ? ### Response: Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach. If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Small Intestine Disorders ? ### Response: Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure ? ### Response: Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autism Spectrum Disorder ? ### Response: Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. It affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes Type 2 ? ### Response: Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Volcanoes ### Response: Summary : A volcano is a vent in the Earth's crust. Hot rock, steam, poisonous gases, and ash reach the Earth's surface when a volcano erupts. An eruption can also cause earthquakes, mudflows and flash floods, rock falls and landslides, acid rain, fires, and even tsunamis. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Diagnostic Imaging ### Response: Summary : Diagnostic imaging lets doctors look inside your body for clues about a medical condition. A variety of machines and techniques can create pictures of the structures and activities inside your body. The type of imaging your doctor uses depends on your symptoms and the part of your body being examined. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klinefelter's Syndrome ? ### Response: Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Diseases ? ### Response: Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sore Throat ? ### Response: Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx (also called the voice box). The technical name for the throat is pharynx. You can have a sore throat for many reasons. Often, colds and flu cause sore throats. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurologic Diseases ? ### Response: The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Animal Bites ? ### Response: Wild animals usually avoid people. They might attack, however, if they feel threatened, are sick, or are protecting their young or territory. Attacks by pets are more common. Animal bites rarely are life-threatening, but if they become infected, you can develop serious medical problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lewy Body Disease ? ### Response: Lewy body disease is one of the most common causes of dementia in the elderly. Dementia is the loss of mental functions severe enough to affect normal activities and relationships. Lewy body disease happens when abnormal structures, called Lewy bodies, build up in areas of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Healthy Living ### Response: Summary : Many factors affect your health. Some you cannot control, such as your genetic makeup or your age. But you can make changes to your lifestyle. By taking steps toward healthy living, you can help reduce your risk of heart disease, cancer, stroke an " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about First Aid ### Response: Summary : Accidents happen. Someone chokes on an ice cube or gets stung by a bee. It is important to know when to call 9-1-1 -- it is for life-threatening emergencies. While waiting for help to arrive, you may be able to save someone's life. Cardiopulmonary resuscitation (CPR) is for people whose hearts or breathing has stopped and the Heimlich maneuver is for people who are choking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sprains and Strains ? ### Response: A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cardiac Arrest ? ### Response: The heart has an internal electrical system that controls the rhythm of the heartbeat. Problems can cause abnormal heart rhythms, called arrhythmias. There are many types of arrhythmia. During an arrhythmia, the heart can beat too fast, too slow, or it can stop beating. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Teen Mental Health ### Response: Summary : Being a teenager is hard. You're under stress to be liked, do well in school, get along with your family, and make big decisions. You can't avoid most of these pressures, and worrying about them is normal. But feeling very sad, hopeless or worthless could be warning signs of a mental health problem. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GERD ? ### Response: Your esophagus is the tube that carries food from your mouth to your stomach. Gastroesophageal reflux disease (GERD) happens when a muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shoulder Injuries and Disorders ? ### Response: Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Valley Fever ? ### Response: Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil of dry areas like the southwestern U.S. You get it from inhaling the spores of the fungus. The infection cannot spread from person to person. Anyone can get Valley Fever. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Postpartum Care ### Response: Summary : Taking home a new baby is one of the happiest times in a woman's life. But it also presents both physical and emotional challenges. - Get as much rest as possible. You may find that all you can do is eat, sleep, and care for your baby. And that is perfectly okay. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Stroke Rehabilitation ### Response: Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with the senses - Problems using or understanding language - Problems with thinking and memory - Emotional disturbances Stroke rehabilitation involves many kinds of health professionals. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vitamin A ### Response: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin A plays a role in your - Vision - Bone growth - Reproduction - Cell functions - Immune system Vitamin A is an antioxidant. It can come from plant or animal sources. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ankylosing Spondylitis ? ### Response: Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints. AS is more common and more severe in men. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallbladder Diseases ? ### Response: Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Toilet Training ? ### Response: Is your child ready to use a potty? The more important question may be, are you? Children are usually ready around ages 18-24 months. They often signal that they are ready by letting you know when their diapers need changing. You should be prepared to commit to three months of daily encouragement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Women's Health Checkup ? ### Response: Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment are better. As a woman, you need some special exams and screenings. During your checkup, your health care provider will usually do: - A pelvic exam - an exam to check if internal female organs are normal by feeling their shape and size. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Health Problems in Pregnancy ? ### Response: Every pregnancy has some risk of problems. The causes can be conditions you already have or conditions you develop. They also include being pregnant with more than one baby, previous problem pregnancies, or being over age 35. They can affect your health and the health of your baby. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Circumcision ### Response: Summary : Circumcision is the removal of the foreskin, which is the skin that covers the tip of the penis. In the United States, it is often done before a new baby leaves the hospital. There are medical benefits and risks to circumcision. Possible benefits include a lower risk of urinary tract infections, penile cancer and sexually transmitted diseases. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Caffeine ### Response: Summary : Caffeine is a bitter substance found in coffee, tea, soft drinks, chocolate, kola nuts, and certain medicines. It has many effects on the body's metabolism, including stimulating the central nervous system. This can make you more alert and give you a boost of energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Cysts ? ### Response: A cyst is a fluid-filled sac. There are two types of kidney cysts. Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hormone Replacement Therapy ### Response: Summary : Menopause is the time in a woman's life when her period stops. It is a normal part of aging. In the years before and during menopause, the levels of female hormones can go up and down. This can cause symptoms such as hot flashes and vaginal dryness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes and Pregnancy ? ### Response: Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Stenosis ? ### Response: Your spine, or backbone, protects your spinal cord and allows you to stand and bend. Spinal stenosis causes narrowing in your spine. The narrowing puts pressure on your nerves and spinal cord and can cause pain. Spinal stenosis occurs mostly in people older than 50. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Celiac Disease ? ### Response: Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tinea Infections ? ### Response: Tinea is the name of a group of diseases caused by a fungus. Types of tinea include ringworm, athlete's foot and jock itch. These infections are usually not serious, but they can be uncomfortable. You can get them by touching an infected person, from damp surfaces such as shower floors, or even from a pet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Birth Control ? ### Response: Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ways: - Preventing sperm from getting to the eggs. Types include condoms, diaphragms, cervical caps, and contraceptive sponges. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stomach Disorders ? ### Response: Your stomach is an organ between your esophagus and small intestine. It is where digestion of protein begins. The stomach has three tasks. It stores swallowed food. It mixes the food with stomach acids. Then it sends the mixture on to the small intestine. Most people have a problem with their stomach at one time or another. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Veterans and Military Family Health ? ### Response: Service members and veterans face some different health issues from civilians. Their families also face some unique challenges. Families may have to cope with - Separation from their loved ones - Anxiety over loved ones' safety in combat zones - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Raynaud's Disease ? ### Response: Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the blood vessels to narrow when you are cold or feeling stressed. When this happens, blood can't get to the surface of the skin and the affected areas turn white and blue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meningococcal Infections ? ### Response: Meningococci are a type of bacteria that cause serious infections. The most common infection is meningitis, which is an inflammation of the thin tissue that surrounds the brain and spinal cord. Meningococci can also cause other problems, including a serious bloodstream infection called sepsis. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cancer--Living with Cancer ### Response: Summary : Cancer is common. Half of all men and a third of women will get a diagnosis of cancer in their lifetime. Many people with cancer do survive. Millions of Americans alive today have a history of cancer. For most people with cancer, living with the disease is the biggest challenge they have ever faced. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Color Blindness ? ### Response: Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Myeloid Leukemia ? ### Response: Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Colonoscopy ### Response: Summary : Colonoscopy and sigmoidoscopy are procedures that let your doctor look inside your large intestine. They use instruments called scopes. Scopes have a tiny camera attached to a long, thin tube. The procedures let your doctor see things such as inflamed tissue, abnormal growths, and ulcers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyotrophic Lateral Sclerosis ? ### Response: Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nasal Cancer ? ### Response: Your paranasal sinuses are small hollow spaces around the nose. They are lined with cells that make mucus, which keeps your nose from drying out. The nasal cavity is the passageway just behind your nose. Air passes through it on the way to your throat as you breathe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatitis B ? ### Response: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis B, is caused by the hepatitis B virus (HBV). Hepatitis B spreads by contact with an infected person's blood, semen, or other body fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Insect Bites and Stings ? ### Response: Most insect bites are harmless, though they sometimes cause discomfort. Bee, wasp, and hornet stings and fire ant bites usually hurt. Mosquito and flea bites usually itch. Insects can also spread diseases. In the United States, some mosquitoes spread West Nile virus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bereavement ? ### Response: Bereavement is the period of grief and mourning after a death. When you grieve, it's part of the normal process of reacting to a loss. You may experience grief as a mental, physical, social or emotional reaction. Mental reactions can include anger, guilt, anxiety, sadness and despair. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Ultrasound ### Response: Summary : Ultrasound is a type of imaging. It uses high-frequency sound waves to look at organs and structures inside the body. Health care professionals use it to view the heart, blood vessels, kidneys, liver, and other organs. During pregnancy, doctors use ultrasound to view the fetus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ureteral Disorders ? ### Response: Your kidneys make urine by filtering wastes and extra water from your blood. The urine travels from the kidneys to the bladder in two thin tubes called ureters. The ureters are about 8 to 10 inches long. Muscles in the ureter walls tighten and relax to force urine down and away from the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Obesity ? ### Response: Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ear Disorders ? ### Response: Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medical Device Safety ### Response: Summary : A medical device is any product used to diagnose, cure, or treat a condition, or to prevent disease. They range from small and simple, like a blood glucose meter, to large and complicated, like a ventilator. You might use one at home or at work, or you may need one in a hospital. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Asian American Health ### Response: Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Asian Americans. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Reye Syndrome ? ### Response: Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently had a viral infection. It always follows another illness. Although it mostly affects children and teens, anyone can get it. It can develop quickly and without warning. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Ozone ### Response: Summary : Ozone is a gas. It can be good or bad, depending on where it is. ""Good"" ozone occurs naturally about 10 to 30 miles above the Earth's surface. It shields us from the sun's ultraviolet rays. Part of the good ozone layer is gone. Man-made chemicals have destroyed it. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about X-Rays ### Response: Summary : X-rays are a type of radiation called electromagnetic waves. X-ray imaging creates pictures of the inside of your body. The images show the parts of your body in different shades of black and white. This is because different tissues absorb different amounts of radiation. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Patient Rights ### Response: Summary : As a patient, you have certain rights. Some are guaranteed by federal law, such as the right to get a copy of your medical records, and the right to keep them private. Many states have additional laws protecting patients, and healthcare facilities often have a patient bill of rights. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemorrhoids ? ### Response: Hemorrhoids are swollen, inflamed veins around the anus or lower rectum. They are either inside the anus or under the skin around the anus. They often result from straining to have a bowel movement. Other factors include pregnancy, aging and chronic constipation or diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hip Injuries and Disorders ? ### Response: Your hip is the joint where your thigh bone meets your pelvis bone. Hips are called ball-and-socket joints because the ball-like top of your thigh bone moves within a cup-like space in your pelvis. Your hips are very stable. When they are healthy, it takes great force to hurt them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infertility ? ### Response: Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Dialysis ### Response: Summary : When your kidneys are healthy, they clean your blood. They also make hormones that keep your bones strong and your blood healthy. When your kidneys fail, you need treatment to replace the work your kidneys used to do. Unless you have a kidney transplant, you will need a treatment called dialysis. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Health Fraud ### Response: Summary : Health fraud involves selling drugs, devices, foods, or cosmetics that have not been proven effective. Keep in mind - if it sounds too good to be true, it's probably a scam. At best, these scams don't work. At worst, they're dangerous. They also waste money, and they might keep you from getting the treatment you really need. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Childhood Immunization ### Response: Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trichomoniasis ? ### Response: Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Laboratory Tests ### Response: Summary : Laboratory tests check a sample of your blood, urine, or body tissues. A technician or your doctor analyzes the test samples to see if your results fall within the normal range. The tests use a range because what is normal differs from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shingles ? ### Response: Shingles is a disease caused by the varicella-zoster virus - the same virus that causes chickenpox. After you have chickenpox, the virus stays in your body. It may not cause problems for many years. As you get older, the virus may reappear as shingles. Although it is most common in people over age 50, anyone who has had chickenpox is at risk. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Dietary Proteins ### Response: Summary : Protein is in every cell in the body. Our bodies need protein from the foods we eat to build and maintain bones, muscles and skin. We get proteins in our diet from meat, dairy products, nuts, and certain grains and beans. Proteins from meat and other animal products are complete proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Health Statistics ### Response: Summary : You see them all the time in the news - the number of people who were in the hospital last year, the percentage of kids who are overweight, the rate at which people are catching the flu, the average cost of a medical procedure. These are all types of health statistics. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscular Dystrophy ? ### Response: Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Twins, Triplets, Multiple Births ? ### Response: If you are pregnant with more than one baby, you are far from alone. Multiple births are up in the United States. More women are having babies after age 30 and more are taking fertility drugs. Both boost the chance of carrying more than one baby. A family history of twins also makes multiples more likely. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Latex Allergy ? ### Response: Latex is a milky fluid that comes from the tropical rubber tree. Hundreds of everyday products contain latex. Repeated exposure to a protein in natural latex can make you more likely to develop a latex allergy. If your immune system detects the protein, a reaction can start in minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spider Bites ? ### Response: Though many people are afraid of spiders, they rarely bite people unless threatened. Most spider bites are harmless. Occasionally, spider bites can cause allergic reactions. And bites by the venomous black widow and brown recluse spiders can be very dangerous to people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscle Cramps ? ### Response: Muscle cramps are sudden, involuntary contractions or spasms in one or more of your muscles. They often occur after exercise or at night, lasting a few seconds to several minutes. It is a very common muscle problem. Muscle cramps can be caused by nerves that malfunction. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Liver Function Tests ### Response: Summary : Your liver helps your body digest food, store energy, and remove poisons. Liver function tests are blood tests that check to see how well your liver is working. They check for liver damage, and can help diagnose liver diseases such as hepatitis and cirrhosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abdominal Pain ? ### Response: Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Surgery ### Response: Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Family Issues ? ### Response: There are many kinds of families. Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the same address. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute Lymphocytic Leukemia ? ### Response: Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes Complications ? ### Response: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can cause problems with other body functions, such as your kidneys, nerves, feet, and eyes. Having diabetes can also put you at a higher risk for heart disease and bone and joint disorders. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Teen Health ### Response: Summary : As a teenager, you go through many changes. Your body is on its way to becoming its adult size. You may notice that you can't fit into your old shoes or that your jeans are now 3 inches too short. Along with these changes, you are probably becoming more independent and making more of your own choices. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cold Sores ? ### Response: Cold sores are caused by a contagious virus called herpes simplex virus (HSV). There are two types of HSV. Type 1 usually causes oral herpes, or cold sores. Type 1 herpes virus infects more than half of the U.S. population by the time they reach their 20s. Type 2 usually affects the genital area Some people have no symptoms from the infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anesthesia ? ### Response: If you are having surgery, your doctor will give you medicine called an anesthetic. Anesthetics reduce or prevent pain. There are three main types: - Local - numbs one small area of the body. You stay awake and alert. - Regional - blocks pain in an area of the body, such an arm or leg. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Bone Grafts ### Response: Summary : A bone graft transplants bone tissue. Surgeons use bone grafts to repair and rebuild diseased bones in your hips, knees, spine, and sometimes other bones and joints. Grafts can also repair bone loss caused by some types of fractures or cancers. Once your body accepts the bone graft, it provides a framework for growth of new, living bone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tremor ? ### Response: Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatitis ? ### Response: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. Viruses cause most cases of hepatitis. The type of hepatitis is named for the virus that causes it; for example, hepatitis A, hepatitis B or hepatitis C. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myositis ? ### Response: Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or autoimmune disease can cause it. Two specific kinds are polymyositis and dermatomyositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Respiratory Syncytial Virus Infections ? ### Response: Respiratory syncytial virus (RSV) causes mild, cold-like symptoms in adults and older healthy children. It can cause serious problems in young babies, including pneumonia and severe breathing problems. Premature babies and those with other health problems have the highest risk. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hantavirus Infections ? ### Response: Hantavirus pulmonary syndrome (HPS) is a rare but deadly viral infection. It is spread by mice and rats. They shed the virus in their urine, droppings, and saliva. Tiny droplets with the virus can enter the air. People can get the disease if they breathe infected air or come into contact with rodents or their urine or droppings. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Varicose Veins ? ### Response: Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein. Your veins have one-way valves that help keep blood flowing toward your heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Malaria ? ### Response: Malaria is a serious disease caused by a parasite. You get it when an infected mosquito bites you. Malaria is a major cause of death worldwide, but it is almost wiped out in the United States. The disease is mostly a problem in developing countries with warm climates. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Movement Disorders ? ### Response: Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Disease in Women ? ### Response: In the United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease, and it happens slowly over time. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Dental Health ### Response: Summary : It's important to take care of your mouth and teeth starting in childhood. If you don't, you could have problems with your teeth and gums - like cavities or even tooth loss. Here's how to keep your mouth and teeth healthy: - Brush your t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Learning Disorders ? ### Response: Learning disorders affect how a person understands, remembers and responds to new information. People with learning disorders may have problems - Listening or paying attention - Speaking - Reading or writing - Doing math Although learning disorders occur in very young children, they are usually not recognized until the child reaches school age. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Blood Transfusion and Donation ### Response: Summary : Every year, millions of people in the United States receive life-saving blood transfusions. During a transfusion, you receive whole blood or parts of blood such as - Red blood cells - cells that carry oxygen to and from tissues and organs - Platelets - cells that form clots to control bleeding - Plasma - the liquid part of the blood that helps clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteogenesis Imperfecta ? ### Response: Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Disease ? ### Response: Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly. It first involves the parts of the brain that control thought, memory and language. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marfan Syndrome ? ### Response: Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Immune System and Disorders ? ### Response: Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these ""foreign"" invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Balance Problems ? ### Response: Have you ever felt dizzy, lightheaded, or as if the room is spinning around you? If the feeling happens often, it could be a sign of a balance problem. Balance problems can make you feel unsteady or as if you were moving, spinning, or floating. They are one cause of falls and fall-related injuries, such as hip fracture. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anthrax ? ### Response: Anthrax is a disease caused by Bacillus anthracis, a germ that lives in soil. Many people know about it from the 2001 bioterror attacks. In the attacks, someone purposely spread anthrax through the U.S. mail. This killed five people and made 22 sick. Anthrax is rare. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Herbal Medicine ### Response: Summary : An herb is a plant or plant part used for its scent, flavor, or therapeutic properties. Herbal medicines are one type of dietary supplement. They are sold as tablets, capsules, powders, teas, extracts, and fresh or dried plants. People use herbal medicines to try to maintain or improve their health. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nail Diseases ? ### Response: Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arm Injuries and Disorders ? ### Response: Of the 206 bones in your body, 3 of them are in your arm; the humerus, radius and ulna. Your arms are also made up of muscles, joints, tendons and other connective tissue. Injuries to any of these parts of the arm can occur during sports, a fall or an accident. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Corneal Disorders ? ### Response: Your cornea is the outermost layer of your eye. It is clear and shaped like a dome. The cornea helps to shield the rest of the eye from germs, dust, and other harmful matter. It also helps your eye to focus. If you wear contact lenses, they float on top of your corneas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Child Behavior Disorders ? ### Response: All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 months. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Antibiotic Resistance ### Response: Summary : Antibiotics are medicines that fight bacterial infections. Used properly, they can save lives. But there is a growing problem of antibiotic resistance. It happens when bacteria change and become able to resist the effects of an antibiotic. Using antibiotics can lead to resistance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Burns ? ### Response: A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Diabetic Diet ### Response: Summary : If you have diabetes, your body cannot make or properly use insulin. This leads to high blood glucose, or blood sugar, levels. Healthy eating helps keep your blood sugar in your target range. It is a critical part of managing your diabetes, because controlling your blood sugar can prevent the complications of diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Occupational Health for Healthcare Providers ### Response: Summary : Healthcare workers are exposed to many job hazards. These can include - Infections - Needle injuries - Back injuries - Allergy-causing substances - Violence - Stress Follow good job safety and injury prevention practices. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gas ? ### Response: Everyone has gas. Most people pass gas 13 to 21 times a day. Passing gas through the mouth is called belching or burping. Passing gas through the anus is called flatulence. Most of the time gas does not have an odor. The odor comes from bacteria in the large intestine that release small amounts of gases that contain sulfur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fractures ? ### Response: A fracture is a break, usually in a bone. If the broken bone punctures the skin, it is called an open or compound fracture. Fractures commonly happen because of car accidents, falls, or sports injuries. Other causes are low bone density and osteoporosis, which cause weakening of the bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypothyroidism ? ### Response: Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Laser Eye Surgery ### Response: Summary : For many people, laser eye surgery can correct their vision so they no longer need glasses or contact lenses. Laser eye surgery reshapes the cornea, the clear front part of the eye. This changes its focusing power. There are different types of laser eye surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Von Hippel-Lindau Disease ? ### Response: Von Hippel-Lindau disease (VHL) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and depend on the size and location of the tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Depression ? ### Response: Depression is a serious medical illness. It's more than just a feeling of being sad or ""blue"" for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydrocephalus ? ### Response: Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain. Hydrocephalus can be congenital, or present at birth. Causes include genetic problems and problems with how the fetus develops. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cesarean Section ### Response: Summary : A Cesarean section (C-section) is surgery to deliver a baby. The baby is taken out through the mother's abdomen. In the United States, about one in four women have their babies this way. Most C-sections are done when unexpected problems happen during delivery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knee Replacement ? ### Response: Knee replacement is surgery for people with severe knee damage. Knee replacement can relieve pain and allow you to be more active. Your doctor may recommend it if you have knee pain and medicine and other treatments are not helping you anymore. When you have a total knee replacement, the surgeon removes damaged cartilage and bone from the surface of your knee joint and replaces them with a man-made surface of metal and plastic. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Mammography ### Response: Summary : A mammogram is an x-ray picture of the breast. It can be used to check for breast cancer in women who have no signs or symptoms of the disease. It can also be used if you have a lump or other sign of breast cancer. Screening mammography is the type of mammogram that checks you when you have no symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Child Care ### Response: Summary : Children's healthy development depends on safe and positive experiences when they are very young. If you work or go to school, you want to know that your child is in good hands while you are away. You may choose in-home care, where the caregiver comes to your home. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about DASH Diet ### Response: Summary : DASH stands for Dietary Approaches to Stop Hypertension. It is an eating plan that is based on research studies sponsored by the National Heart, Lung, and Blood Institute (NHLBI). These studies showed that DASH lowers high blood pressure and improves levels of cholesterol. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sarcoidosis ? ### Response: Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Diseases--Prevention ? ### Response: Heart disease is the leading cause of death in the U.S. It is also a major cause of disability. The risk of heart disease increases as you age. You have a greater risk of heart disease if you are a man over age 45 or a woman over age 55. You also are at greater risk if you have a close family member who had heart disease at an early age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteonecrosis ? ### Response: Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Foreign Bodies ? ### Response: If you've ever gotten a splinter or had sand in your eye, you've had experience with a foreign body. A foreign body is something that is stuck inside you but isn't supposed to be there. You may inhale or swallow a foreign body, or you may get one from an injury to almost any part of your body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mental Disorders ? ### Response: Mental disorders include a wide range of problems, including - Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias - Bipolar disorder - Depression - Mood disorders - Personality disorders - Psychotic disorders, including schizophrenia There are many causes of mental disorders. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about CPR ### Response: Summary : When someone's blood flow or breathing stops, seconds count. Permanent brain damage or death can happen quickly. If you know how to perform cardiopulmonary resuscitation (CPR), you could save a life. CPR is an emergency procedure for a person whose heart has stopped or is no longer breathing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Scleroderma ? ### Response: Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. Connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Child Mental Health ### Response: Summary : It's important to recognize and treat mental illnesses in children early on. Once mental illness develops, it becomes a regular part of your child's behavior and is more difficult to treat. But it's not always easy to know when your child has a serious problem. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leishmaniasis ? ### Response: Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver, and bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Seasonal Affective Disorder ? ### Response: Some people experience a serious mood change during the winter months, when there is less natural sunlight. This condition is called seasonal affective disorder, or SAD. SAD is a type of depression. It usually lifts during spring and summer. Not everyone with SAD has the same symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Birth Weight ### Response: Summary : Birth weight is the first weight of your baby, taken just after he or she is born. A low birth weight is less than 5.5 pounds. A high birth weight is more than 8.8 pounds. A low birth weight baby can be born too small, too early (premature), or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Child Abuse ? ### Response: Child abuse is doing something or failing to do something that results in harm to a child or puts a child at risk of harm. Child abuse can be physical, sexual or emotional. Neglect, or not providing for a child's needs, is also a form of abuse. Most abused children suffer greater emotional than physical damage. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Body Weight ### Response: Summary : Do you know if your current weight is healthy? ""Underweight"", ""normal"", ""overweight"", and ""obese"" are all labels for ranges of weight. Obese and overweight mean that your weight is greater than it should be for your health. Underweight means that it is lower than it should be for your health. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Coronary Artery Bypass Surgery ### Response: Summary : In coronary artery disease (CAD), the arteries that supply blood and oxygen to your heart muscle grow hardened and narrowed. You may try treatments such as lifestyle changes, medicines, and angioplasty, a procedure to open the arteries. If these treatments don't help, you may need coronary artery bypass surgery. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Iron ### Response: Summary : Iron is a mineral that our bodies need for many functions. For example, iron is part of hemoglobin, a protein which carries oxygen from our lungs throughout our bodies. It helps our muscles store and use oxygen. Iron is also part of many other proteins and enzymes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Norovirus Infections ? ### Response: Noroviruses are a group of related viruses. Infection with these viruses causes an illness called gastroenteritis, an inflammation of the stomach and intestines. It can spread from person to person, or through contaminated food or water. You can also get it if you touch a contaminated surface. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Gun Safety ### Response: Summary : Many U.S. households have guns, but they can cause harm if not handled properly. Here are some things you can do to keep yourself and your family safe: - Teach children that they shouldn't touch guns and that if they see a gun, to leave it alone and tell an adult. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Foodborne Illness ? ### Response: Each year, 48 million people in the U.S. get sick from contaminated food. Common culprits include bacteria, parasites and viruses. Symptoms range from mild to serious. They include - Upset stomach - Abdominal cramps - Nausea and vomiting - Diarrhea - Fever - Dehydration Harmful bacteria are the most common cause of foodborne illness. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Liver Transplantation ### Response: Summary : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a damaged liver working. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about A1C ### Response: Summary : A1C is a blood test for type 2 diabetes and prediabetes. It measures your average blood glucose, or blood sugar, level over the past 3 months. Doctors may use the A1C alone or in combination with other diabetes tests to make a diagnosis. They also use the A1C to see how well you are managing your diabetes. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Food Labeling ### Response: Summary : Most packaged foods in the U.S. have food labels. On every food label you will see - Serving size, number of servings, and number of calories per serving - Information on the amount of dietary fat, cholesterol, dietary fiber, dietary sod " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital Heart Defects ? ### Response: A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diphtheria ? ### Response: Diphtheria is a serious bacterial infection. You can catch it from a person who has the infection and coughs or sneezes. You can also get infected by coming in contact with an object, such as a toy, that has bacteria on it. Diphtheria usually affects the nose and throat. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Triglycerides ### Response: Summary : Triglycerides are a type of fat found in your blood. Too much of this type of fat may raise the risk of coronary artery disease, especially in women. A blood test measures your triglycerides along with your cholesterol. Normal triglyceride levels are below 150. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neural Tube Defects ? ### Response: Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Uterine Diseases ? ### Response: The uterus, or womb, is the place where a baby grows when a woman is pregnant. The first sign of a problem with the uterus may be bleeding between periods or after sex. Causes can include hormones, thyroid problems, fibroids, polyps, cancer, infection, or pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Choking ? ### Response: Food or small objects can cause choking if they get caught in your throat and block your airway. This keeps oxygen from getting to your lungs and brain. If your brain goes without oxygen for more than four minutes, you could have brain damage or die. Young children are at an especially high risk of choking. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Tears ### Response: Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision. Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of your eye. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Down Syndrome ? ### Response: Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aortic Aneurysm ? ### Response: An aneurysm is a bulge or ""ballooning"" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms are in the aorta, the main artery that runs from the heart through the chest and abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tendinitis ? ### Response: Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon. Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and soreness around a joint. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sinusitis ? ### Response: Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Cancer ? ### Response: The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bleeding ? ### Response: Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menstruation ? ### Response: Menstruation, or period, is normal vaginal bleeding that occurs as part of a woman's monthly cycle. Every month, your body prepares for pregnancy. If no pregnancy occurs, the uterus, or womb, sheds its lining. The menstrual blood is partly blood and partly tissue from inside the uterus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rectal Disorders ? ### Response: The rectum is the lower part of your large intestine where your body stores stool. Problems with rectum are common. They include hemorrhoids, abscesses, incontinence and cancer. Many people are embarrassed to talk about rectal troubles. But seeing your doctor about problems in this area is important. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bone Infections ? ### Response: Like other parts of the body, bones can get infected. The infections are usually bacterial, but can also be fungal. They may spread to the bone from nearby skin or muscles, or from another part of the body through the bloodstream. People who are at risk for bone infections include those with diabetes, poor circulation, or recent injury to the bone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian Disorders ? ### Response: The ovaries are a pair of organs that women have. They are located in the pelvis, one on each side of the uterus. Each ovary is about the size and shape of an almond. The ovaries produce a woman's eggs. If an egg is fertilized by a sperm, a pregnancy can result. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epilepsy ? ### Response: Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Assistive Devices ### Response: Summary : If you have a disability or injury, you may use a number of assistive devices. These are tools, products or types of equipment that help you perform tasks and activities. They may help you move around, see, communicate, eat, or get dressed. Some are high-tech tools, such as computers. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Nutritional Support ### Response: Summary : Nutritional support is therapy for people who cannot get enough nourishment by eating or drinking. You may need it if you - Can't swallow - Have problems with your appetite - Are severely malnourished - Can't absorb nutrients through your digestive system You receive nutritional support through a needle or catheter placed in your vein or with a feeding tube, which goes into your stomach. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vitamin E ### Response: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin E is an antioxidant. It plays a role in your immune system and metabolic processes. Good sources of vitamin E include - Vegetable oils - Margarine - Nuts and seeds - Leafy greens Vitamin E is also added to foods like cereals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psychotic Disorders ? ### Response: Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bladder Cancer ? ### Response: The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States. Symptoms include - Blood in your urine - A frequent urge to urinate - Pain when you urinate - Low back pain Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple Myeloma ? ### Response: Multiple myeloma is a cancer that begins in plasma cells, a type of white blood cell. These cells are part of your immune system, which helps protect the body from germs and other harmful substances. In time, myeloma cells collect in the bone marrow and in the solid parts of bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tooth Decay ? ### Response: You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pituitary Disorders ? ### Response: Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the ""master control gland"" - it makes hormones that affect growth and the functions of other glands in the body. With pituitary disorders, you often have too much or too little of one of your hormones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypoglycemia ? ### Response: Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Diseases ? ### Response: If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Cancer ? ### Response: Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include - Age - the chance of getting breast cancer rises as a woman gets older - Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpal Tunnel Syndrome ? ### Response: You're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. Suddenly, a sharp, piercing pain shoots through the wrist and up your arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trigeminal Neuralgia ? ### Response: Trigeminal neuralgia (TN) is a type of chronic pain that affects your face. It causes extreme, sudden burning or shock-like pain. It usually affects one side of the face. Any vibration on your face, even from talking, can set it off. The condition may come and go, disappearing for days or even months. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Breast Reconstruction ### Response: Summary : If you need a mastectomy, you have a choice about whether or not to have surgery to rebuild the shape of the breast. Instead of breast reconstruction, you could choose to wear a breast form that replaces the breast, wear padding inside your bra, or do nothing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukodystrophies ? ### Response: The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fifth Disease ? ### Response: Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low fever, cold symptoms, and a headache. Then you get a red rash on your face. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bacterial Infections ? ### Response: Bacteria are living things that have only one cell. Under a microscope, they look like balls, rods, or spirals. They are so small that a line of 1,000 could fit across a pencil eraser. Most bacteria won't hurt you - less than 1 percent of the different types make people sick. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute Bronchitis ? ### Response: Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Electromagnetic Fields ### Response: Summary : Electric and magnetic fields (EMFs) are areas of energy that surround electrical devices. Everyday sources of EMFs include - Power lines - Electrical wiring - Microwave ovens - Computers - Cell phones Some people worry about EMF exposure and cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cartilage Disorders ? ### Response: Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as your ears, nose and windpipe. Healthy cartilage helps you move by allowing your bones to glide over each other. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shock ? ### Response: Shock happens when not enough blood and oxygen can get to your organs and tissues. It causes very low blood pressure and may be life threatening. It often happens along with a serious injury. There are several kinds of shock. Hypovolemic shock happens when you lose a lot of blood or fluids. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chagas Disease ? ### Response: Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. Infected blood-sucking bugs, sometimes called kissing bugs, spread it. When the bug bites you, usually on your face, it leaves behind infected waste. You can get the infection if you rub it in your eyes or nose, the bite wound or a cut. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Genetic Disorders ? ### Response: Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) High Blood Pressure in Pregnancy ? ### Response: If you are pregnant, high blood pressure can cause problems for you and your unborn baby. You may have had high blood pressure before you got pregnant. Or you may get it once you are pregnant - a condition called gestational hypertension. Either one can cause low birth weight or premature delivery of the baby. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral Palsy ? ### Response: Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Genetic Counseling ### Response: Summary : Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss genetic risks. The counseling may be for yourself or a family member. Or you may get it when you are planning or expecting a baby. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalitis ? ### Response: Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about HPV ### Response: Summary : Human papillomaviruses (HPV) are common viruses that can cause warts. There are more than 100 types of HPV. Most are harmless, but about 30 types put you at risk for cancer. These types affect the genitals and you get them through sexual contact with an infected partner. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Methamphetamine ### Response: Summary : Methamphetamine - meth for short - is a very addictive stimulant drug. It is a powder that can be made into a pill or a shiny rock (called a crystal). The powder can be eaten or snorted up the nose. It can also be mixed with liquid and injected into your body with a needle. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Speech and Language Problems in Children ? ### Response: Children vary in their development of speech and language skills. Health professionals have milestones for what's normal. These milestones help determine if a child is on track or if he or she may need extra help. For example, a child usually has one or two words like ""Hi,"" ""dog,"" ""Dada,"" or ""Mama"" by her first birthday. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Earthquakes ? ### Response: An earthquake happens when two blocks of the earth suddenly slip past one another. Earthquakes strike suddenly, violently, and without warning at any time of the day or night. If an earthquake occurs in a populated area, it may cause property damage, injuries, and even deaths. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Elder Abuse ? ### Response: Many older people are victims of elder abuse. It is the mistreatment of an older person, usually by a caregiver. It can happen within the family. It can also happen in assisted living facilities or nursing homes. The mistreatment may be - Physical, sexual, or emotional abuse - Neglect or abandonment - Financial abuse - stealing of money or belongings Possible signs of elder abuse include unexplained bruises, burns, and injuries. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Fluid and Electrolyte Balance ### Response: Summary : Electrolytes are minerals in your body that have an electric charge. They are in your blood, urine and body fluids. Maintaining the right balance of electrolytes helps your body's blood chemistry, muscle action and other processes. Sodium, calcium, potassium, chlorine, phosphate and magnesium are all electrolytes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hidradenitis Suppurativa ? ### Response: Hidradenitis suppurativa (HS) is a chronic skin disease. It can occur in one or multiple areas of your body. HS usually develops in your armpits, groin, and anal area. It causes long-term skin inflammation and can be painful. Symptoms include - Blackheads and red, tender bumps, called abscesses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ankle Injuries and Disorders ? ### Response: Your ankle bone and the ends of your two lower leg bones make up the ankle joint. Your ligaments, which connect bones to one another, stabilize and support it. Your muscles and tendons move it. The most common ankle problems are sprains and fractures. A sprain is an injury to the ligaments. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Urinalysis ### Response: Summary : A urinalysis is a test of your urine. It is often done to check for a urinary tract infections, kidney problems, or diabetes. You may also have one during a checkup, if you are admitted to the hospital, before you have surgery, or if you are pregnant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mumps ? ### Response: Mumps is an illness caused by the mumps virus. It starts with - Fever - Headache - Muscle aches - Tiredness - Loss of appetite After that, the salivary glands under the ears or jaw become swollen and tender. The swelling can be on one or both sides of the face. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Muscular Atrophy ? ### Response: Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pain Relievers ### Response: Summary : Pain relievers are medicines that reduce or relieve headaches, sore muscles, arthritis, or other aches and pains. There are many different pain medicines, and each one has advantages and risks. Some types of pain respond better to certain medicines than others. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rabies ? ### Response: Rabies is a deadly animal disease caused by a virus. It can happen in wild animals, including raccoons, skunks, bats and foxes, or in dogs, cats or farm animals. People get it from the bite of an infected animal. In people, symptoms of rabies include fever, headache and fatigue, then confusion, hallucinations and paralysis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Toxoplasmosis ? ### Response: Toxoplasmosis is a disease caused by the parasite Toxoplasma gondii. More than 60 million people in the U.S. have the parasite. Most of them don't get sick. But the parasite causes serious problems for some people. These include people with weak immune systems and babies whose mothers become infected for the first time during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eye Infections ? ### Response: Your eyes can get infections from bacteria, fungi, or viruses. Eye infections can occur in different parts of the eye and can affect just one eye or both. Two common eye infections are - Conjunctivitis - also known as pinkeye. Conjunctivitis is often due to an infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Taste and Smell Disorders ? ### Response: Our senses of taste and smell give us great pleasure. Taste helps us enjoy food and beverages. Smell lets us enjoy the scents and fragrances like roses or coffee. Taste and smell also protect us, letting us know when food has gone bad or when there is a gas leak. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriatic Arthritis ? ### Response: Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get them on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people with psoriasis have psoriatic arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatitis C ? ### Response: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis C, is caused by the hepatitis C virus (HCV). It usually spreads through contact with infected blood. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Organ Donation ### Response: Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs - Skin - Bone and bone marrow - Cornea Most organ and tissue donations occur after the donor has died. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Weight Control ### Response: Summary : Keeping a healthy weight is crucial. If you are underweight, overweight, or obese, you may have a higher risk of certain health problems. About two thirds of adults in the U.S. are overweight or obese. Achieving a healthy weight can help you control your cholesterol, blood pressure and blood sugar. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Angioplasty ### Response: Summary : If you have coronary artery disease, the arteries in your heart are narrowed or blocked by a sticky material called plaque. Angioplasty is a procedure to restore blood flow through the artery. You have angioplasty in a hospital. The doctor threads a thin tube through a blood vessel in the arm or groin up to the involved site in the artery. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Statins ### Response: Summary : Statins are drugs used to lower cholesterol. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can stick to the walls of your arteries and narrow or even block them. If diet and exercise don't reduce your cholesterol levels, you may need to take medicine. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Water Safety (Recreational) ### Response: Summary : Playing in the water - whether swimming, boating or diving - can be fun. It can also be dangerous, especially for children. Being safe can help prevent injuries and drowning. To stay safe in the water - Avoid alcohol when swimming or boating " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Kidney Problems ? ### Response: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your kidneys. Your kidneys clean your blood. If they are damaged, waste and fluids build up in your blood instead of leaving your body. Kidney damage from diabetes is called diabetic nephropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Constipation ? ### Response: Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oral Cancer ? ### Response: Oral cancer can form in any part of the mouth or throat. Most oral cancers begin in the tongue and in the floor of the mouth. Anyone can get oral cancer, but the risk is higher if you are male, over age 40, use tobacco or alcohol or have a history of head or neck cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Calcium ### Response: Summary : You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Back Injuries ? ### Response: Your back is made of bones, muscles, and other tissues extending from your neck to your pelvis. Back injuries can result from sports injuries, work around the house or in the garden, or a sudden jolt such as a car accident. The lower back is the most common site of back injuries and back pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sciatica ? ### Response: Sciatica is a symptom of a problem with the sciatic nerve, the largest nerve in the body. It controls muscles in the back of your knee and lower leg and provides feeling to the back of your thigh, part of your lower leg, and the sole of your foot. When you have sciatica, you have pain, weakness, numbness, or tingling. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anal Disorders ? ### Response: The anus is the opening of the rectum through which stool passes out of your body. Problems with the anus are common. They include hemorrhoids, abscesses, fissures (cracks), and cancer. You may be embarrassed to talk about your anal troubles. But it is important to let your doctor know, especially if you have pain or bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Lymphocytic Leukemia ? ### Response: Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Oil Spills ### Response: Summary : Oil spills often happen because of accidents, when people make mistakes or equipment breaks down. Other causes include natural disasters or deliberate acts. Oil spills have major environmental and economic effects. Oil spills can also affect human health. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Motion Sickness ? ### Response: Motion sickness is a common problem in people traveling by car, train, airplanes and especially boats. Motion sickness can start suddenly, with a queasy feeling and cold sweats. It can then lead to dizziness and nausea and vomiting. Your brain senses movement by getting signals from your inner ears, eyes, muscles and joints. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Metabolic Panel ### Response: Summary : A metabolic panel is a group of tests that measures different chemicals in the blood. These tests are usually done on the fluid (plasma) part of blood. The tests provide information about your body's chemical balance and metabolism. They can give doctors information about your muscles (including the heart), bones, and organs, such as the kidneys and liver. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Water Pollution ### Response: Summary : We all need clean water. People need it to grow crops and to operate factories, and for drinking and recreation. Fish and wildlife depend on it to survive. Many different pollutants can harm our rivers, streams, lakes, and oceans. The three most common are soil, nutrients, and bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Throat Cancer ? ### Response: Throat cancer is a type of head and neck cancer. Throat cancer has different names, depending on what part of the throat is affected. The different parts of the throat are called the oropharynx, the hypopharynx, and the nasopharynx. Sometimes the larynx, or voice box, is also included. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eye Cancer ? ### Response: Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up of muscles, skin and nerves. If the cancer starts inside the eyeball it's called intraocular cancer. The most common intraocular cancers in adults are melanoma and lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Connective Tissue Disorders ? ### Response: Connective tissue is the material inside your body that supports many of its parts. It is the ""cellular glue"" that gives your tissues their shape and helps keep them strong. It also helps some of your tissues do their work. Cartilage and fat are examples of connective tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thalassemia ? ### Response: Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vulvar Disorders ? ### Response: The vulva is the external part of a woman's genitals. Some problems you can have with the vulvar area include - Bacterial or fungal infections - Skin problems due to allergy - Vulvar cancer - Vulvodynia, or vulvar pain Symptoms may include redness, itching, pain, or cracks in the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arrhythmia ? ### Response: An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about MRI Scans ### Response: Summary : Magnetic resonance imaging (MRI) uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions, from torn ligaments to tumors. MRIs are very useful for examining the brain and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile Arthritis ? ### Response: Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases it can affect internal organs as well. The most common type of JA that children get is juvenile idiopathic arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Esophageal Cancer ? ### Response: The esophagus is a hollow tube that carries food and liquids from your throat to your stomach. Early esophageal cancer usually does not cause symptoms. Later, you may have symptoms such as - Painful or difficult swallowing - Weight loss - A hoarse voice or cough that doesn't go away You're at greater risk for getting esophageal cancer if you smoke, drink heavily, or have acid reflux. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Brain Tumors ? ### Response: Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood cancers. Some are benign tumors, which aren't cancer. They can still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches and other symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pulmonary Rehabilitation ### Response: Summary : Pulmonary rehabilitation (rehab) is a medically supervised program to help people who have chronic breathing problems, including - COPD (chronic obstructive pulmonary disease) - Sarcoidosis - Idiopathic pulmonary fibrosis - Cystic fibrosis During pulmonary rehab you may do exercise training and learn breathing techniques. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bullying ? ### Response: Bullying is when a person or group repeatedly tries to harm someone who is weaker or who they think is weaker. Sometimes it involves direct attacks such as hitting, name calling, teasing or taunting. Sometimes it is indirect, such as spreading rumors or trying to make others reject someone. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Complementary and Integrative Medicine ### Response: Summary : Many Americans use medical treatments that are not part of mainstream medicine. When you are using these types of care, it may be called complementary, integrative, or alternative medicine. Complementary medicine is used together with mainstream medical care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary Hypertension ? ### Response: Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelvic Pain ? ### Response: Pelvic pain occurs mostly in the lower abdomen area. The pain might be steady, or it might come and go. If the pain is severe, it might get in the way of your daily activities. If you're a woman, you might feel a dull pain during your period. It could also happen during sex. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cloning ### Response: Summary : Cloning describes the processes used to create an exact genetic replica of another cell, tissue or organism. The copied material, which has the same genetic makeup as the original, is referred to as a clone. The most famous clone was a Scottish sheep named Dolly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes Type 1 ? ### Response: Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes Simplex ? ### Response: Herpes is an infection that is caused by a herpes simplex virus (HSV). Oral herpes causes cold sores around the mouth or face. Genital herpes affects the genitals, buttocks or anal area. Genital herpes is a sexually transmitted disease (STD). It affects the genitals, buttocks or anal area. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dengue ? ### Response: Dengue is an infection caused by a virus. You can get it if an infected mosquito bites you. Dengue does not spread from person to person. It is common in warm, wet areas of the world. Outbreaks occur in the rainy season. Dengue is rare in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Common Cold ? ### Response: Sneezing, sore throat, a stuffy nose, coughing - everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. You can get a cold by touching your eyes or nose after you touch surfaces with cold germs on them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Penis Disorders ? ### Response: Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include - Erectile dysfunction - inability to get or keep an erection - Priapism - a painful erection that does not go away - Peyronie' " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Newborn Screening ### Response: Summary : Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include - Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Impaired Driving ### Response: Summary : Impaired driving is dangerous. It's the cause of more than half of all car crashes. It means operating a motor vehicle while you are affected by - Alcohol - Legal or illegal drugs - Sleepiness - Distractions, such as using a cell phone or texting - Having a medical condition which affects your driving For your safety and the safety of others, do not drive while impaired. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pregnancy and Medicines ### Response: Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements. Always speak with your health care provider before you start or stop any medicine. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pregnancy and Medicines ### Response: Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements. Always speak with your health care provider before you start or stop any medicine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Friedreich's Ataxia ? ### Response: Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cystic Fibrosis ? ### Response: Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Health Disparities ? ### Response: Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rates of certain diseases, and more deaths and suffering from them, compared to others. These groups may be based on - Race " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pancreas Transplantation ### Response: Summary : The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. A pancreas transplant is surgery to place a healthy pancreas from a donor into a person with a diseased pancreas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Whooping Cough ? ### Response: Whooping cough is an infectious bacterial disease that causes uncontrollable coughing. The name comes from the noise you make when you take a breath after you cough. You may have choking spells or may cough so hard that you vomit. Anyone can get whooping cough, but it is more common in infants and children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spina Bifida ? ### Response: Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Folic Acid ### Response: Summary : Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. Getting enough folic acid before and during pregnancy can prevent major birth defects of her baby's brain or spine. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hurricanes ### Response: Summary : A hurricane is a severe type of tropical storm. Hurricanes produce high winds, heavy rains and thunderstorms. Hurricanes can cause tremendous damage. Winds can exceed 155 miles per hour. Hurricanes and tropical storms can also spawn tornadoes and lead to flooding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pain ? ### Response: Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) H1N1 Flu (Swine Flu) ? ### Response: Swine flu is an infection caused by a virus. It's named for a virus that pigs can get. People do not normally get swine flu, but human infections can and do happen. In 2009 a strain of swine flu called H1N1 infected many people around the world. The virus is contagious and can spread from human to human. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prostate Diseases ? ### Response: The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine away from the bladder and out of the body. A young man's prostate is about the size of a walnut. It slowly grows larger with age. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vitamin D ### Response: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. A lack of vitamin D can lead to bone diseases such as osteoporosis or rickets. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Heart Transplantation ### Response: Summary : A heart transplant removes a damaged or diseased heart and replaces it with a healthy one. The healthy heart comes from a donor who has died. It is the last resort for people with heart failure when all other treatments have failed. The heart failure might have been caused by coronary heart disease, damaged heart valves or heart muscles, congenital heart defects, or viral infections of the heart. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cosmetics ### Response: Summary : Cosmetics are products you apply to your body to clean it, make it more attractive, or change the way it looks. They include - Hair dyes - Makeup - Perfumes - Skin-care creams Cosmetics that treat or prevent diseases are also drugs. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Lice ### Response: Summary : Lice are parasitic insects that can be found on people's heads and bodies. They survive by feeding on human blood. Lice found on each area of the body are different from each other. The three types of lice that live on humans are head lice, body lice (also called clothes lice), and pubic lice (""crabs""). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neck Injuries and Disorders ? ### Response: Any part of your neck - muscles, bones, joints, tendons, ligaments, or nerves - can cause neck problems. Neck pain is very common. Pain may also come from your shoulder, jaw, head, or upper arms. Muscle strain or tension often causes neck pain. The problem is usually overuse, such as from sitting at a computer for too long. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Mental Health ### Response: Summary : Mental health includes our emotional, psychological, and social well-being. It affects how we think, feel and act as we cope with life. It also helps determine how we handle stress, relate to others, and make choices. Mental health is important at every stage of life, from childhood and adolescence through adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tuberous Sclerosis ? ### Response: Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include - Skin problems, such as light patches and thickened skin - Seizures - Behavior problems - Intellectual disabilities - Kidney problems Some people have signs of tuberous sclerosis at birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Eye Problems ? ### Response: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your eyes. The most common problem is diabetic retinopathy. It is a leading cause of blindness in American adults. Your retina is the light-sensitive tissue at the back of your eye. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Breastfeeding ### Response: Summary : Breastfeeding offers many benefits to your baby. Breast milk contains the right balance of nutrients to help your infant grow into a strong and healthy toddler. Some of the nutrients in breast milk also help protect your infant against some common childhood illnesses and infections. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pet Health ### Response: Summary : Pets can add fun, companionship and a feeling of safety to your life. Before getting a pet, think carefully about which animal is best for your family. What is each family member looking for in a pet? Who will take care of it? Does anyone have pet allergies? What type of animal suits your lifestyle and budget? Once you own a pet, keep it healthy. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Biodefense and Bioterrorism ### Response: Summary : A bioterrorism attack is the deliberate release of viruses, bacteria, or other germs to cause illness or death. These germs are often found in nature. But they can sometimes be made more harmful by increasing their ability to cause disease, spread, or resist medical treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Fatigue Syndrome ? ### Response: Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medical Ethics ### Response: Summary : The field of ethics studies principles of right and wrong. There is hardly an area in medicine that doesn't have an ethical aspect. For example, there are ethical issues relating to - End of life care: Should a patient receive nutrition? Wh " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Plague ? ### Response: Plague is an infection caused by the bacterium Yersinia pestis. The bacteria are found mainly in rats and in the fleas that feed on them. People and other animals can get plague from rat or flea bites. In the past, plague destroyed entire civilizations. Today plague is uncommon, due to better living conditions and antibiotics. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dual Diagnosis ? ### Response: A person with dual diagnosis has both a mental disorder and an alcohol or drug problem. These conditions occur together frequently. In particular, alcohol and drug problems tend to occur with - Depression - Anxiety disorders - Schizophrenia - Personality disorders Sometimes the mental problem occurs first. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian Cancer ? ### Response: The ovaries are part of the female reproductive system. They produce a woman's eggs and female hormones. Each ovary is about the size and shape of an almond. Cancer of the ovary is not common, but it causes more deaths than other female reproductive cancers. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Nuclear Scans ### Response: Summary : Nuclear scans use radioactive substances to see structures and functions inside your body. They use a special camera that detects radioactivity. Before the test, you receive a small amount of radioactive material. You may get it as an injection. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Coping with Disasters ### Response: Summary : No matter how well you have prepared, you might feel dazed or numb after going through a disaster. You may also feel sad, helpless, or anxious. In spite of the tragedy, you might just feel happy to be alive. It is not unusual to have bad memories or dreams. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dry Mouth ? ### Response: Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smallpox ? ### Response: Smallpox is a disease caused by the Variola major virus. Some experts say that over the centuries it has killed more people than all other infectious diseases combined. Worldwide immunization stopped the spread of smallpox three decades ago. The last case was reported in 1977. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hysterectomy ### Response: Summary : A hysterectomy is surgery to remove a woman's uterus or womb. The uterus is the place where a baby grows when a woman is pregnant. After a hysterectomy, you no longer have menstrual periods and can't become pregnant. Sometimes the surgery also removes the ovaries and fallopian tubes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miscarriage ? ### Response: A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Heart Surgery ### Response: Summary : Heart surgery can correct problems with the heart if other treatments haven't worked or can't be used. The most common type of heart surgery for adults is coronary artery bypass grafting (CABG). During CABG, a healthy artery or vein from the body is connected, or grafted, to a blocked coronary (heart) artery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breathing Problems ? ### Response: When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes mild breathing problems are from a stuffy nose or hard exercise. But shortness of breath can also be a sign of a serious disease. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Dietary Supplements ### Response: Summary : Dietary supplements are vitamins, minerals, herbs, and many other products. They can come as pills, capsules, powders, drinks, and energy bars. Supplements do not have to go through the testing that drugs do. Some supplements can play an important role in health. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Uterine Cancer ? ### Response: The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a women is pregnant. There are different types of uterine cancer. The most common type starts in the endometrium, the lining of the uterus. This type of cancer is sometimes called endometrial cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aspergillosis ? ### Response: Aspergillosis is a disease caused by a fungus (or mold) called Aspergillus. The fungus is very common in both indoors and outdoors. Most people breathe in the spores of the fungus every day without being affected. But some people get the disease. It usually occurs in people with lung diseases or weakened immune systems. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Tonsils and Adenoids ### Response: Summary : Your tonsils and adenoids are part of your lymphatic system. Your tonsils are in the back of your throat. Your adenoids are higher up, behind your nose. Both help protect you from infection by trapping germs coming in through your mouth and nose. Sometimes your tonsils and adenoids become infected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Uterine Fibroids ? ### Response: Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spleen Diseases ? ### Response: Your spleen is an organ above your stomach and under your ribs on your left side. It is about as big as your fist. The spleen is part of your lymphatic system, which fights infection and keeps your body fluids in balance. It contains white blood cells that fight germs. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Food Safety ### Response: Summary : Safe steps in food handling, cooking, and storage can prevent foodborne illness. There are four basic steps to food safety at home: - Clean - always wash your fruits and vegetables, hands, counters, and cooking utensils. - Separate - keep raw foods to themselves. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Air Pollution ### Response: Summary : Air pollution is a mixture of solid particles and gases in the air. Car emissions, chemicals from factories, dust, pollen and mold spores may be suspended as particles. Ozone, a gas, is a major part of air pollution in cities. When ozone forms air pollution, it's also called smog. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Biopsy ### Response: Summary : A biopsy is a procedure that removes cells or tissue from your body. A doctor called a pathologist looks at the cells or tissue under a microscope to check for damage or disease. The pathologist may also do other tests on it. Biopsies can be done on all parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Soft Tissue Sarcoma ? ### Response: Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cleft Lip and Palate ? ### Response: Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatitis A ? ### Response: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis A, is caused by the hepatitis A virus (HAV). The disease spreads through contact with an infected person's stool. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hearing Aids ? ### Response: A hearing aid is a small electronic device that you wear in or behind your ear. It makes some sounds louder. A hearing aid can help people hear more in both quiet and noisy situations. Hearing aids help people who have hearing loss from damage to the small sensory cells in the inner ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes in Children and Teens ? ### Response: Until recently, the common type of diabetes in children and teens was type 1. It was called juvenile diabetes. With Type 1 diabetes, the pancreas does not make insulin. Insulin is a hormone that helps glucose,or sugar, get into your cells to give them energy. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Puberty ### Response: Summary : Puberty is the time in life when a boy or girl becomes sexually mature. It is a process that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. It causes physical changes, and affects boys and girls differently. In girls: - The first sign of puberty is usually breast development. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Noise ### Response: Summary : Noise is all around you, from televisions and radios to lawn mowers and washing machines. Normally, you hear these sounds at safe levels that don't affect hearing. But sounds that are too loud or loud sounds over a long time are harmful. They can damage sensitive structures of the inner ear and cause noise-induced hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dizziness and Vertigo ? ### Response: When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo. A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menopause ? ### Response: Menopause is the time in a woman's life when her period stops. It usually occurs naturally, most often after age 45. Menopause happens because the woman's ovaries stop producing the hormones estrogen and progesterone. A woman has reached menopause when she has not had a period for one year. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cataract ? ### Response: A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erectile Dysfunction ? ### Response: Erectile dysfunction (ED) is a common type of male sexual dysfunction. It is when a man has trouble getting or keeping an erection. ED becomes more common as you get older. But it's not a natural part of aging. Some people have trouble speaking with their doctors about sex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Refractive Errors ? ### Response: The cornea and lens of your eye helps you focus. Refractive errors are vision problems that happen when the shape of the eye keeps you from focusing well. The cause could be the length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Radon ### Response: Summary : You can't see radon. And you can't smell it or taste it. But it may be a problem in your home. Radon comes from the natural breakdown of uranium in soil, rock, and water. Radon is the second leading cause of lung cancer in the United States. There are low levels of radon outdoors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pemphigus ? ### Response: Pemphigus is an autoimmune disorder. If you have it, your immune system attacks healthy cells in your skin and mouth, causing blisters and sores. No one knows the cause. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people's genes put them more at risk for pemphigus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dislocations ? ### Response: Dislocations are joint injuries that force the ends of your bones out of position. The cause is often a fall or a blow, sometimes from playing a contact sport. You can dislocate your ankles, knees, shoulders, hips, elbows and jaw. You can also dislocate your finger and toe joints. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gout ? ### Response: Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Foot ? ### Response: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rheumatoid Arthritis ? ### Response: Rheumatoid arthritis (RA) is a form of arthritis that causes pain, swelling, stiffness and loss of function in your joints. It can affect any joint but is common in the wrist and fingers. More women than men get rheumatoid arthritis. It often starts in middle age and is most common in older people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urethral Disorders ? ### Response: The urethra is the tube that allows urine to pass out of the body. In men, it's a long tube that runs through the penis. It also carries semen in men. In women, it's short and is just above the vagina. Urethral problems may happen due to aging, illness, or injury. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Traveler's Health ### Response: Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hodgkin Disease ? ### Response: Hodgkin disease is a type of lymphoma. Lymphoma is a cancer of a part of the immune system called the lymph system. The first sign of Hodgkin disease is often an enlarged lymph node. The disease can spread to nearby lymph nodes. Later it may spread to the lungs, liver, or bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diverticulosis and Diverticulitis ? ### Response: Diverticula are small pouches that bulge outward through the colon, or large intestine. If you have these pouches, you have a condition called diverticulosis. It becomes more common as people age. About half of all people over age 60 have it. Doctors believe the main cause is a low-fiber diet. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Alcohol ### Response: Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a day or seven drinks per week. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Staphylococcal Infections ? ### Response: Staph is short for Staphylococcus, a type of bacteria. There are over 30 types, but Staphylococcus aureus causes most staph infections (pronounced ""staff infections""), including - Skin infections - Pneumonia - Food poisoning - Toxic shock syndrome - Blood poisoning (bacteremia) Skin infections are the most common. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stroke ? ### Response: A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Advance Directives ### Response: Summary : What kind of medical care would you want if you were too ill or hurt to express your wishes? Advance directives are legal documents that allow you to spell out your decisions about end-of-life care ahead of time. They give you a way to tell your wishes to family, friends, and health care professionals and to avoid confusion later on. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Food Allergy ? ### Response: Food allergy is an abnormal response to a food triggered by your body's immune system. In adults, the foods that most often trigger allergic reactions include fish, shellfish, peanuts, and tree nuts, such as walnuts. Problem foods for children can include eggs, milk, peanuts, tree nuts, soy, and wheat. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Men's Health ### Response: Summary : Most men need to pay more attention to their health. Compared to women, men are more likely to - Smoke and drink - Make unhealthy or risky choices - Put off regular checkups and medical care There are also health conditions that only affect men, such as prostate cancer and low testosterone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuromuscular Disorders ? ### Response: Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphatic Diseases ? ### Response: The lymphatic system is a network of tissues and organs. It is made up of - Lymph - a fluid that contains white blood cells that defend against germs - Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Antidepressants ### Response: Summary : Antidepressants are medicines that treat depression. Your doctor can prescribe them for you. They work to balance some of the natural chemicals in our brains. It may take several weeks for them to help. There are several types of antidepressants. You and your doctor may have to try a few before finding what works best for you. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about College Health ### Response: Summary : College life involves excitement, along with new challenges, risks, and responsibilities. You are meeting new people, learning new things, and making your own decisions. It can sometimes be stressful. You have to deal with pressures related to food, drink, appearance, drugs, and sexual activity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smoking and Youth ? ### Response: Smoking cigarettes has many health risks for everyone. However, the younger you are when you start smoking, the more problems it can cause. People who start smoking before the age of 21 have the hardest time quitting. Teens who smoke are also more likely to use alcohol and illegal drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nausea and Vomiting ? ### Response: Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hormones ### Response: Summary : Hormones are your body's chemical messengers. They travel in your bloodstream to tissues or organs. They work slowly, over time, and affect many different processes, including - Growth and development - Metabolism - how your body gets energy from the foods you eat - Sexual function - Reproduction - Mood Endocrine glands, which are special groups of cells, make hormones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Pigmentation Disorders ? ### Response: Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Blood Count Tests ### Response: Summary : Your blood contains red blood cells (RBC), white blood cells (WBC), and platelets. Blood count tests measure the number and types of cells in your blood. This helps doctors check on your overall health. The tests can also help to diagnose diseases and conditions such as anemia, infections, clotting problems, blood cancers, and immune system disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemochromatosis ? ### Response: Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Injuries ? ### Response: Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or dislocates your vertebrae, the bone disks that make up your spine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Developmental Disabilities ? ### Response: Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bleeding Disorders ? ### Response: Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pressure Sores ? ### Response: Pressure sores are areas of damaged skin caused by staying in one position for too long. They commonly form where your bones are close to your skin, such as your ankles, back, elbows, heels and hips. You are at risk if you are bedridden, use a wheelchair, or are unable to change your position. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Tornadoes ### Response: Summary : Tornadoes are nature's most violent storms. They are rotating, funnel-shaped clouds that extend from a thunderstorm to the ground. Their whirling winds can reach 300 miles per hour. They can strike quickly with little or no warning, devastate a neighborhood in seconds, and leave a path of damage over a mile wide and 50 miles long. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Haemophilus Infections ? ### Response: Haemophilus is the name of a group of bacteria. There are several types of Haemophilus. They can cause different types of illnesses involving breathing, bones and joints, and the nervous system. One common type, Hib (Haemophilus influenzae type b), causes serious disease. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Premature Babies ### Response: Summary : Almost 1 of every 10 infants born in the United States are premature, or preemies. A premature birth is when a baby is born before 37 completed weeks of pregnancy. A full-term pregnancy is 40 weeks. Important growth and development happen throughout pregnancy - especially in the final months and weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Obsessive-Compulsive Disorder ? ### Response: Obsessive-compulsive disorder (OCD) is a type of anxiety disorder. If you have OCD, you have frequent, upsetting thoughts called obsessions. To try to control the thoughts, you feel an overwhelming urge to repeat certain rituals or behaviors. These are called compulsions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Low Blood Pressure ? ### Response: You've probably heard that high blood pressure is a problem. Sometimes blood pressure that is too low can also cause problems. Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vitamin C ### Response: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin C is an antioxidant. It is important for your skin, bones, and connective tissue. It promotes healing and helps the body absorb iron. Vitamin C comes from fruits and vegetables. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Bone Marrow Transplantation ### Response: Summary : Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into red blood cells, which carry oxygen throughout the body, white blood cells, which fight infections, and platelets, which help the blood to clot. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endocrine Diseases ? ### Response: Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Retinal Disorders ? ### Response: The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Arsenic ### Response: Summary : Arsenic is a natural element found in soil and minerals. Arsenic compounds are used to preserve wood, as pesticides, and in some industries. Arsenic can get into air, water, and the ground from wind-blown dust. It may also get into water from runoff. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vasectomy ### Response: Summary : Vasectomy is a type of surgery that prevents a man from being able to get a woman pregnant. It is a permanent form of birth control. Vasectomy works by blocking the tube through which sperm pass. The surgery usually takes no more than 30 minutes. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Prenatal Testing ### Response: Summary : Prenatal testing provides information about your baby's health before he or she is born. Some routine tests during pregnancy also check on your health. At your first prenatal visit, your healthcare provider will test for a number of things, including problems with your blood, signs of infections, and whether you are immune to rubella (German measles) and chickenpox. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cochlear Implants ### Response: Summary : A cochlear implant is a small, complex electronic device that can help to provide a sense of sound. People who are profoundly deaf or severely hard-of-hearing can get help from them. The implant consists of two parts. One part sits on the outside of the body, behind the ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paralysis ? ### Response: Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Failure ? ### Response: Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adhesions ? ### Response: Adhesions are bands of scar-like tissue. Normally, internal tissues and organs have slippery surfaces so they can shift easily as the body moves. Adhesions cause tissues and organs to stick together. They might connect the loops of the intestines to each other, to nearby organs, or to the wall of the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paget's Disease of Bone ? ### Response: Paget's disease of bone causes your bones to grow too large and weak. They also might break easily. The disease can lead to other health problems, too, such as arthritis and hearing loss. You can have Paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Female Infertility ? ### Response: Infertility means not being able to get pregnant after at least one year of trying (or 6 months if the woman is over age 35). If a woman keeps having miscarriages, it is also called infertility. Female infertility can result from age, physical problems, hormone problems, and lifestyle or environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Exercise for Seniors ### Response: Summary : Exercise and physical activity are good for just about everyone, including older adults. There are four main types and each type is different. Doing them all will give you more benefits. - Endurance, or aerobic, activities increase your breathing and heart rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kaposi's Sarcoma ? ### Response: Kaposi's sarcoma is a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat or in other organs. The patches are usually red or purple and are made of cancer cells and blood cells. The red and purple patches often cause no symptoms, though they may be painful. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurofibromatosis ? ### Response: Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Failure ? ### Response: Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blood Pressure Medicines ? ### Response: High blood pressure, also called hypertension, usually has no symptoms. But it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. If you cannot control your high blood pressure through lifestyle changes such as losing weight and reducing sodium in your diet, you may need medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nose Injuries and Disorders ? ### Response: Your nose is important to your health. It filters the air you breathe, removing dust, germs, and irritants. It warms and moistens the air to keep your lungs and tubes that lead to them from drying out. Your nose also contains the nerve cells that help your sense of smell. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Concussion ? ### Response: A concussion is a type of brain injury. It's the most minor form. Technically, a concussion is a short loss of normal brain function in response to a head injury. But people often use it to describe any minor injury to the head or brain. Concussions are a common type of sports injury. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rosacea ? ### Response: Rosacea is a long-term disease that affects your skin and sometimes your eyes. It causes redness and pimples. Rosacea is most common in women and people with fair skin. It most often affects middle-aged and older adults. In most cases, rosacea only affects the face. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Pain ? ### Response: Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hiccups ? ### Response: A hiccup is an unintentional movement of the diaphragm, the muscle at the base of the lungs. It's followed by quick closing of the vocal cords, which produces the ""hic"" sound you make. There are a large number of causes, including large meals, alcohol, or hot and spicy foods. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Finger Injuries and Disorders ? ### Response: You use your fingers and thumbs to do everything from grasping objects to playing musical instruments to typing. When there is something wrong with them, it can make life difficult. Common problems include - Injuries that result in fractures, ruptured ligaments and dislocations - Osteoarthritis - wear-and-tear arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bedbugs ? ### Response: Bedbugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bedbugs don't transmit or spread diseases. Adult bedbugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tumors and Pregnancy ? ### Response: Tumors during pregnancy are rare, but they can happen. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. The most common cancers in pregnancy are breast cancer, cervical cancer, lymphoma, and melanoma. Cancer itself rarely harms the baby, and some cancer treatments are safe during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Clostridium Difficile Infections ? ### Response: Clostridium difficile (C. difficile) is a bacterium that causes diarrhea and more serious intestinal conditions such as colitis. Symptoms include - Watery diarrhea (at least three bowel movements per day for two or more days) - Fever - Loss of appetite - Nausea - Abdominal pain or tenderness You might get C. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Health Checkup ? ### Response: Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment and cure are better. Which exams and screenings you need depends on your age, health and family history, and lifestyle choices such as what you eat, how active you are, and whether you smoke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Teenage Pregnancy ? ### Response: Most teenage girls don't plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother and the baby. Often, teens don't get prenatal care soon enough, which can lead to problems later on. They have a higher risk for pregnancy-related high blood pressure and its complications. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) HIV/AIDS and Infections ? ### Response: Having HIV/AIDS weakens your body's immune system. Your immune system normally fights germs that enter your body. When HIV/AIDS makes it weak, it can't fight germs well. This can lead to serious infections that don't often affect healthy people. These are called opportunistic infections (OIs). " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Baby Health Checkup ### Response: Summary : There are many new responsibilities when you have a baby. One of them is to make sure they get the checkups that they need. Well-baby exams are important in making sure that your baby is growing and developing properly. If there are problems, you can catch them early. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitral Valve Prolapse ? ### Response: Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are ""floppy"" and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knee Injuries and Disorders ? ### Response: Your knee joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the knee joint move. When any of these structures is hurt or diseased, you have knee problems. Knee problems can cause pain and difficulty walking. Knee problems are very common, and they occur in people of all ages. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Poison Ivy, Oak and Sumac ? ### Response: If you spend time outdoors, chances are you have been bothered by poison ivy, poison oak or poison sumac at some point. Most people are sensitive to the plants' oily sap. The sap is in the root, stems, leaves and fruit of these plants. If it gets on your skin, it causes a blistering skin rash. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) After Surgery ? ### Response: After any operation, you'll have some side effects. There is usually some pain with surgery. There may also be swelling and soreness around the area that the surgeon cut. Your surgeon can tell you which side effects to expect. There can also be complications. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Secondhand Smoke ### Response: Summary : Secondhand smoke is a mixture of the smoke that comes from the burning end of a cigarette, cigar, or pipe, and the smoke breathed out by the smoker. It contains more than 7,000 chemicals. Hundreds of those chemicals are toxic and about 70 can cause cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medicare Prescription Drug Coverage ### Response: Summary : Part D is the name of Medicare's prescription drug coverage. It's insurance that helps people pay for prescription drugs. It is available to everyone who has Medicare. It provides protection if you pay high drug costs or have unexpected prescription drug bills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rotator Cuff Injuries ? ### Response: Your rotator cuff is located in your shoulder area. It is made of muscles and tendons. It helps your shoulder to move and stay stable. Problems with the rotator cuff are common. They include tendinitis, bursitis, and injuries such as tears. Rotator cuff tendons can become inflamed from frequent use or aging. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Helicobacter Pylori Infections ? ### Response: Helicobacter pylori (H. pylori) is a type of bacteria that causes infection in the stomach. It is found in about two-thirds of the world's population. It may be spread by unclean food and water, but researchers aren't sure. It causes Peptic ulcers and can also cause stomach cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Attention Deficit Hyperactivity Disorder ? ### Response: Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Diets ### Response: Summary : Your diet is made up of what you eat. A healthy diet - May include fruits, vegetables, whole grains, and fat-free or low-fat milk and milk products - May include lean meats, poultry, fish, beans, eggs and nuts - Goes easy on saturated fats, trans fat, cholesterol, salt (sodium), and added sugars There are many different types of diets. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Ebola ### Response: Summary : Ebola hemorrhagic fever is caused by a virus. It is a severe and often fatal disease. It can affect humans and other primates. Researchers believe that the virus first spreads from an infected animal to a human. It can then spread from human to human through direct contact with a patient's blood or secretions. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medicines ### Response: Summary : You may need to take medicines every day, or only once in a while. Either way, you want to make sure that the medicines are safe and will help you get better. In the United States, the Food and Drug Administration is in charge of assuring the safety and effectiveness of both prescription and over-the-counter medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prader-Willi Syndrome ? ### Response: Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Drinking Water ### Response: Summary : We all need to drink water. How much you need depends on your size, activity level, and the weather where you live. The water you drink is a combination of surface water and groundwater. Surface water includes rivers, lakes and reservoirs. Groundwater comes from underground. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune Diseases ? ### Response: Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infections and Pregnancy ? ### Response: If you are pregnant, an infection can be more than just a problem for you. Some infections can be dangerous to your baby. You can help yourself avoid infections: - Don't eat raw or undercooked meat - Don't share food or drinks with other people - Wash your hands frequently - Don't empty cat litter. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coping with Chronic Illness ? ### Response: Having a long-term, or chronic, illness can disrupt your life in many ways. You may often be tired and in pain. Your illness might affect your appearance or your physical abilities and independence. You may not be able to work, causing financial problems. For children, chronic illnesses can be frightening, because they may not understand why this is happening to them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endocarditis ? ### Response: Endocarditis, also called infective endocarditis (IE), is an inflammation of the inner lining of the heart. The most common type, bacterial endocarditis, occurs when germs enter your heart. These germs come through your bloodstream from another part of your body, often your mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Guillain-Barre Syndrome ? ### Response: Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS nerves connect your brain and spinal cord with the rest of your body. Damage to these nerves makes it hard for them to transmit signals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gum Disease ? ### Response: If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pregnancy and Substance Abuse ? ### Response: When you are pregnant, you are not just ""eating for two."" You also breathe and drink for two, so it is important to carefully consider what you give to your baby. If you smoke, use alcohol or take illegal drugs, so does your unborn baby. First, don't smoke. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Evaluating Health Information ### Response: Summary : Millions of consumers get health information from magazines, TV or the Internet. Some of the information is reliable and up to date; some is not. How can you tell the good from the bad? First, consider the source. If you use the Web, look for an ""about us"" page. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Degenerative Nerve Diseases ? ### Response: Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Native American Health ### Response: Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Americans. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gluten Sensitivity ? ### Response: Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins, and supplements. People with gluten sensitivity have problems with gluten. It is different from celiac disease, an immune disease in which people can't eat gluten because it will damage their small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Head Lice ? ### Response: Head lice are parasitic wingless insects. They live on people's heads and feed on their blood. An adult louse is about the size of a sesame seed. The eggs, called nits, are even smaller - about the size of a knot in thread. Lice and nits are found on or near the scalp, most often at the neckline and behind the ears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prediabetes ? ### Response: Prediabetes means you have blood glucose, or blood sugar, levels that are higher than normal but not high enough to be called diabetes. Glucose comes from the foods you eat. Too much glucose in your blood can damage your body over time. If you have prediabetes, you are more likely to develop type 2 diabetes, heart disease, and stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Voice Disorders ? ### Response: Voice is the sound made by air passing from your lungs through your larynx, or voice box. In your larynx are your vocal cords, two bands of muscle that vibrate to make sound. For most of us, our voices play a big part in who we are, what we do, and how we communicate. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Eye Wear ### Response: Summary : Eye wear protects or corrects your vision. Examples are - Sunglasses - Safety goggles - Glasses (also called eyeglasses) - Contact lenses If you need corrective lenses, you may be able to choose between contacts or glasses. Either usually requires a prescription. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bile Duct Diseases ? ### Response: Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Testicular Disorders ? ### Response: Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Scabies ? ### Response: Scabies is an itchy skin condition caused by the microscopic mite Sarcoptes scabei. It is common all over the world, and can affect anyone. Scabies spreads quickly in crowded conditions where there is frequent skin-to-skin contact between people. Hospitals, child-care centers, and nursing homes are examples. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Genetic Brain Disorders ? ### Response: A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain. Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rotavirus Infections ? ### Response: Rotavirus is a virus that causes gastroenteritis. Symptoms include severe diarrhea, vomiting, fever, and dehydration. Almost all children in the U.S. are likely to be infected with rotavirus before their 5th birthday. Infections happen most often in the winter and spring. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chest Injuries and Disorders ? ### Response: The chest is the part of the body between your neck and your abdomen. It includes the ribs and breastbone. Inside your chest are several organs, including the heart, lungs, and esophagus. The pleura, a large thin sheet of tissue, lines the inside of the chest cavity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Migraine ? ### Response: If you suffer from migraine headaches, you're not alone. About 12 percent of the U.S. population gets them. Migraines are recurring attacks of moderate to severe pain. The pain is throbbing or pulsing, and is often on one side of the head. During migraines, people are very sensitive to light and sound. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Kidney Transplantation ### Response: Summary : A kidney transplant is an operation that places a healthy kidney in your body. The transplanted kidney takes over the work of the two kidneys that failed, so you no longer need dialysis. During a transplant, the surgeon places the new kidney in your lower abdomen and connects the artery and vein of the new kidney to your artery and vein. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Molds ### Response: Summary : Molds are fungi that can be found both outdoors and indoors. They grow best in warm, damp and humid conditions. If you have damp or wet spots in your house, you will probably get mold. Molds can cause health problems. Inhaling or touching mold or mold spores may cause allergic reactions or asthma attacks in sensitive people. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Artificial Limbs ### Response: Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Circulation problems from atherosclerosis or diabetes. They may cause you to need an amputation. - Traumatic injuries, including from traffic accidents and military combat - Cancer - Birth defects If you are missing an arm or leg, an artificial limb can sometimes replace it. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pacemakers and Implantable Defibrillators ### Response: Summary : An arrhythmia is any disorder of your heart rate or rhythm. It means that your heart beats too quickly, too slowly, or with an irregular pattern. Most arrhythmias result from problems in the electrical system of the heart. If your arrhythmia is serious, you may need a cardiac pacemaker or an implantable cardioverter defibrillator (ICD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bipolar Disorder ? ### Response: Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, ""up,"" and active to very sad and hopeless, ""down,"" and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Premenstrual Syndrome ? ### Response: Premenstrual syndrome, or PMS, is a group of symptoms that start one to two weeks before your period. Most women have at least some symptoms of PMS, and the symptoms go away after their periods start. For some women, the symptoms are severe enough to interfere with their lives. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herniated Disk ? ### Response: Your backbone, or spine, is made up of 26 bones called vertebrae. In between them are soft disks filled with a jelly-like substance. These disks cushion the vertebrae and keep them in place. As you age, the disks break down or degenerate. As they do, they lose their cushioning ability. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Healthy Aging ### Response: Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tetanus ? ### Response: Tetanus is a serious illness caused by Clostridium bacteria. The bacteria live in soil, saliva, dust, and manure. The bacteria can enter the body through a deep cut, like those you might get from stepping on a nail, or through a burn. The infection causes painful tightening of the muscles, usually all over the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eyelid Disorders ? ### Response: Your eyelids help protect your eyes. When you blink, your eyelids spread moisture over your eyes. Blinking also helps move dirt or other particles off the surface of the eye. You close your eyelids when you see something coming towards your eyes. This can help protect against injuries. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Veterans and Military Health ### Response: Summary : Military service members and veterans face some different health issues than civilians. During combat, the main health concerns are life-threatening injuries. These include - Shrapnel and gunshot wounds - Lost limbs - Head and brain injuries There may also be a risk of health problems from exposure to environmental hazards, such as contaminated water, chemicals, and infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Scoliosis ? ### Response: Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aneurysms ? ### Response: An aneurysm is a bulge or ""ballooning"" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chlamydia Infections ? ### Response: Chlamydia is a common sexually transmitted disease caused by bacteria. You can get chlamydia during oral, vaginal, or anal sex with an infected partner. Both men and women can get it. Chlamydia usually doesn't cause symptoms. If it does, you might notice a burning feeling when you urinate or abnormal discharge from your vagina or penis. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Farm Health and Safety ### Response: Summary : You might think of farms as peaceful settings. Actually, farming is one of the most dangerous jobs in the United States. Farms have many health and safety hazards, including - Chemicals and pesticides - Machinery, tools and equipment that can be dangerous - Hazardous areas, such as grain bins, silos and wells - Livestock that can spread diseases or cause injuries Farming injuries are very common. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Limb Loss ### Response: Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Problems with blood circulation. These may be the result of atherosclerosis or diabetes. Severe cases may result in amputation. - Injuries, including from traffic accidents and military combat - Cancer - Birth defects Some amputees have phantom pain, which is the feeling of pain in the missing limb. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anemia ? ### Response: If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tick Bites ? ### Response: If you spend time outdoors or have pets that go outdoors, you need to beware of ticks. Ticks are small bloodsucking parasites. Many species transmit diseases to animals and people. Some of the diseases you can get from a tick bite are Lyme disease, ehrlichiosis, Rocky Mountain spotted fever and tularemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mild Cognitive Impairment ? ### Response: Some forgetfulness can be a normal part of aging. However, some people have more memory problems than other people their age. This condition is called mild cognitive impairment, or MCI. People with MCI can take care of themselves and do their normal activities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Genital Herpes ? ### Response: Genital herpes is a sexually transmitted disease (STD) caused by a herpes simplex virus (HSV). It can cause sores on your genital or rectal area, buttocks, and thighs. You can get it from having sex, even oral sex. The virus can spread even when sores are not present. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cholera ? ### Response: Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Addison Disease ? ### Response: Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fragile X Syndrome ? ### Response: Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Carbohydrates ### Response: Summary : Carbohydrates are one of the main types of nutrients. They are the most important source of energy for your body. Your digestive system changes carbohydrates into glucose (blood sugar). Your body uses this sugar for energy for your cells, tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thoracic Outlet Syndrome ? ### Response: Thoracic outlet syndrome (TOS) causes pain in the shoulder, arm, and neck. It happens when the nerves or blood vessels just below your neck are compressed, or squeezed. The compression can happen between the muscles of your neck and shoulder or between the first rib and collarbone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heat Illness ? ### Response: Your body normally cools itself by sweating. During hot weather, especially with high humidity, sweating just isn't enough. Your body temperature can rise to dangerous levels and you can develop a heat illness. Most heat illnesses occur from staying out in the heat too long. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallstones ? ### Response: Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Native Hawaiian and Pacific Islander Health ### Response: Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Hawaiians and Pacific Islanders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Esophagus Disorders ? ### Response: The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong. The most common problem with the esophagus is gastroesophageal reflux disease (GERD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sleep Apnea ? ### Response: Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about School Health ### Response: Summary : Your child spends more time at school than anywhere else except home. Schools can have a major effect on children's health. Schools can teach children about health, and promote healthy behaviors. Physical education classes give children a chance to get exercise. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Managed Care ? ### Response: Managed care plans are a type of health insurance. They have contracts with health care providers and medical facilities to provide care for members at reduced costs. These providers make up the plan's network. How much of your care the plan will pay for depends on the network's rules. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about International Health ### Response: Summary : The spread of a disease doesn't stop at a country's borders. With more people traveling to other countries and living in crowded cities, it's easier for germs to spread. Infectious diseases that start in one part of the world can quickly reach another. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing's Syndrome ? ### Response: Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, taking synthetic hormone medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that can cause your body to make too much cortisol. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infectious Arthritis ? ### Response: Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Infectious arthritis is an infection in the joint. The infection comes from a bacterial, viral, or fungal infection that spreads from another part of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jaundice ? ### Response: Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dystonia ? ### Response: Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Sodium ### Response: Summary : Table salt is made up of the elements sodium and chlorine - the technical name for salt is sodium chloride. Your body needs some sodium to work properly. It helps with the function of nerves and muscles. It also helps to keep the right balance of fluids in your body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stuttering ? ### Response: Stuttering is a problem that affects the flow of your speech. If you stutter, you may - Make certain words sound longer than they should be - Find it hard to start a new word - Repeat words or parts of words - Get tense when you try to speak. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bursitis ? ### Response: A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Living with HIV/AIDS ? ### Response: Infection with HIV is serious. But the outlook for people with HIV/AIDS is improving. If you are infected with HIV, there are many things you can do to help ensure you have a longer, healthier life. One important thing is to take your medicines. Make sure you have a health care provider who knows how to treat HIV. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Environmental Health ### Response: Summary : Our environment affects our health. If parts of the environment, like the air, water, or soil become polluted, it can lead to health problems. For example, asthma pollutants and chemicals in the air or in the home can trigger asthma attacks. Some environmental risks are a part of the natural world, like radon in the soil. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dentures ? ### Response: Dentures are false teeth made to replace teeth you have lost. Dentures can be complete or partial. Complete dentures cover your entire upper or lower jaw. Partials replace one or a few teeth. Advances in dentistry have made many improvements in dentures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monkeypox Virus Infections ? ### Response: Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fatigue ? ### Response: Everyone feels tired now and then. Sometimes you may just want to stay in bed. But, after a good night's sleep, most people feel refreshed and ready to face a new day. If you continue to feel tired for weeks, it's time to see your doctor. He or she may be able to help you find out what's causing your fatigue and recommend ways to relieve it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heart Attack ? ### Response: Each year over a million people in the U.S. have a heart attack. About half of them die. Many people have permanent heart damage or die because they don't get help immediately. It's important to know the symptoms of a heart attack and call 9-1-1 if someone is having them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parasitic Diseases ? ### Response: Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bird Flu ? ### Response: Birds, just like people, get the flu. Bird flu viruses infect birds, including chickens, other poultry, and wild birds such as ducks. Most bird flu viruses can only infect other birds. However, bird flu can pose health risks to people. The first case of a bird flu virus infecting a person directly, H5N1, was in Hong Kong in 1997. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Granulomatosis with Polyangiitis ? ### Response: Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis, is a rare disease. It is a type of vasculitis, or inflammation of the blood vessels. The inflammation limits the flow of blood to important organs, causing damage. It can affect any organ, but it mainly affects the sinuses, nose, trachea (windpipe), lungs, and kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Cancer ? ### Response: You have two kidneys. They are fist-sized organs on either side of your backbone above your waist. The tubes inside filter and clean your blood, taking out waste products and making urine. Kidney cancer forms in the lining of tiny tubes inside your kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pneumonia ? ### Response: Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Dietary Fats ### Response: Summary : Fat is a type of nutrient. You need some fat in your diet but not too much. Fats give you energy and help your body absorb vitamins. Dietary fat also plays a major role in your cholesterol levels. But not all fats are the same. You should try to avoid - Saturated fats such as butter, solid shortening, and lard - Trans fats. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Deep Vein Thrombosis ? ### Response: Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary Fibrosis ? ### Response: Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thyroid Diseases ? ### Response: Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Prenatal Care ### Response: Summary : Prenatal care is the health care you get while you are pregnant. It includes your checkups and prenatal testing. Prenatal care can help keep you and your baby healthy. It lets your health care provider spot health problems early. Early treatment can cure many problems and prevent others. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Angina ? ### Response: Angina is chest pain or discomfort you feel when there is not enough blood flow to your heart muscle. Your heart muscle needs the oxygen that the blood carries. Angina may feel like pressure or a squeezing pain in your chest. It may feel like indigestion. You may also feel pain in your shoulders, arms, neck, jaw, or back. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Radiation Exposure ### Response: Summary : Radiation is energy that travels in the form of waves or high-speed particles. It occurs naturally in sunlight. Man-made radiation is used in X-rays, nuclear weapons, nuclear power plants and cancer treatment. If you are exposed to small amounts of radiation over a long time, it raises your risk of cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parenting ? ### Response: If you're a parent, you get plenty of suggestions on how to raise your child. From experts to other parents, people are always ready to offer advice. Parenting tips, parents' survival guides, dos, don'ts, shoulds and shouldn'ts - new ones come out daily. The truth is there is more than one ""right"" way to be a good parent. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cold and Cough Medicines ### Response: Summary : Sneezing, sore throat, a stuffy nose, coughing -- everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. What can you do for your cold or cough symptoms? Besides drinking plenty of fluids and getting plenty of rest, you may want to take medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer's Caregivers ? ### Response: Caring for someone who has Alzheimer's disease (AD) can be stressful and overwhelming. It's important to take care of yourself. Ask for and accept help. Talk to the doctor. Find out what treatments might help control symptoms or address behavior problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth Disease ? ### Response: Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vitiligo ? ### Response: Vitiligo causes white patches on your skin. It can also affect your eyes, mouth, and nose. It occurs when the cells that give your skin its color are destroyed. No one knows what destroys them. It is more common in people with autoimmune diseases, and it might run in families. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creutzfeldt-Jakob Disease ? ### Response: Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Facial Injuries and Disorders ? ### Response: Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Broken bones, especially the bones of your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebellar Disorders ? ### Response: When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include - Cancer - Genetic disorders - Ataxias - failure of muscle control in the arms and legs that result in movement disorders - Degeneration - disorders caused by brain cells decreasing in size or wasting away Treatment of cerebellar disorders depends on the cause. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Ostomy ### Response: Summary : An ostomy is surgery to create an opening (stoma) from an area inside the body to the outside. It treats certain diseases of the digestive or urinary systems. It can be permanent, when an organ must be removed. It can be temporary, when the organ needs time to heal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Irritable Bowel Syndrome ? ### Response: Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel habits. Some people with the disorder have constipation. Some have diarrhea. Others go back and forth between the two. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crohn's Disease ? ### Response: Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Atherosclerosis ? ### Response: Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about CT Scans ### Response: Summary : Computed tomography (CT) is a type of imaging. It uses special x-ray equipment to make cross-sectional pictures of your body. Doctors use CT scans to look for - Broken bones - Cancers - Blood clots - Signs of heart disease - Internal bleeding During a CT scan, you lie still on a table. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tinnitus ? ### Response: Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelodysplastic Syndromes ? ### Response: Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cervical Cancer ? ### Response: The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Memory ? ### Response: Your mind works a lot like a computer. Your brain puts information it judges to be important into ""files."" When you remember something, you pull up a file. Memory doesn't always work perfectly. As people grow older, it may take longer to retrieve those files. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Drowning ? ### Response: People drown when they get too much water in their lungs. You can drown in as little as an inch or two of water. Babies can drown in a sink or bathtub. Preschoolers are most likely to drown in a swimming pool. People who have seizure disorders are also at risk in the water. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Delirium ? ### Response: Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with - Attention and awareness - Thinking and memory - Emotion - Muscle control - Sleeping and waking Causes of delirium include medications, poisoning, serious illnesses or infections, and severe pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brain Tumors ? ### Response: A brain tumor is a growth of abnormal cells in the tissues of the brain. Brain tumors can be benign, with no cancer cells, or malignant, with cancer cells that grow quickly. Some are primary brain tumors, which start in the brain. Others are metastatic, and they start somewhere else in the body and move to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Child Nutrition ### Response: Summary : A healthy diet helps children grow and learn. It also helps prevent obesity and weight-related diseases, such as diabetes. To give your child a nutritious diet - Make half of what is on your child's plate fruits and vegetables - Choose healthy sources of protein, such as lean meat, nuts, and eggs - Serve whole-grain breads and cereals because they are high in fiber. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lead Poisoning ? ### Response: Lead is a metal that occurs naturally in the earth's crust. Lead can be found in all parts of our environment. Much of it comes from human activities such as mining and manufacturing. Lead used to be in paint; older houses may still have lead paint. You could be exposed to lead by - Eating food or drinking water that contains lead. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arthritis ? ### Response: If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adrenal Gland Cancer ? ### Response: Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions. A number of disorders can affect the adrenal glands, including tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kidney Stones ? ### Response: A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Over-the-Counter Medicines ### Response: Summary : Over-the-counter (OTC) medicines are drugs you can buy without a prescription. Some OTC medicines relieve aches, pains and itches. Some prevent or cure diseases, like tooth decay and athlete's foot. Others help manage recurring problems, like migraines. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cocaine ### Response: Summary : Cocaine is a white powder. It can be snorted up the nose or mixed with water and injected with a needle. Cocaine can also be made into small white rocks, called crack. Crack is smoked in a small glass pipe. Cocaine speeds up your whole body. You may feel full of energy, happy, and excited. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Safety ### Response: Summary : You can't remove all the safety hazards from your life, but you can reduce them. To avoid many major hazards and prepare for emergencies - Keep emergency phone numbers by your telephones - Make a first aid kit for your home - Make a family emergency plan - Install and maintain smoke alarms and carbon monoxide detectors - Keep guns unloaded and locked up. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Endoscopy ### Response: Summary : Endoscopy is a procedure that lets your doctor look inside your body. It uses an instrument called an endoscope, or scope for short. Scopes have a tiny camera attached to a long, thin tube. The doctor moves it through a body passageway or opening to see inside an organ. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Self-harm ? ### Response: Self-harm refers to a person's harming their own body on purpose. About 1 in 100 people hurts himself or herself in this way. More females hurt themselves than males. A person who self-harms usually does not mean to kill himself or herself. But they are at higher risk of attempting suicide if they do not get help. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Adoption ### Response: Summary : Adoption brings a child born to other parents into a new family. Birth parents have a number of reasons for placing children for adoption. Overall, they want better lives for their children than they think they can give them. Children who are eligible for adoption come from many different settings. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hospice Care ### Response: Summary : Hospice care is end-of-life care. A team of health care professionals and volunteers provides it. They give medical, psychological, and spiritual support. The goal of the care is to help people who are dying have peace, comfort, and dignity. The caregivers try to control pain and other symptoms so a person can remain as alert and comfortable as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Giardia Infections ? ### Response: Giardiasis is an illness caused by a parasite called Giardia intestinalis. It lives in soil, food, and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. You can also get it if you're exposed to human feces (poop) through sexual contact. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Family History ? ### Response: Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, environment, and lifestyle. Looking at these factors can help you figure out whether you have a higher risk for certain health problems, such as heart disease, stroke, and cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Growth Disorders ? ### Response: Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be developing normally. Some children are short or tall because their parents are. But some children have growth disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Suicide ? ### Response: Suicide is the tenth most common cause of death in the United States. People may consider suicide when they are hopeless and can't see any other solution to their problems. Often it's related to serious depression, alcohol or substance abuse, or a major stressful event. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cosmetic Dentistry ### Response: Summary : If you have stained, broken or uneven teeth, cosmetic dentistry can help. Cosmetic dentistry is different from orthodontic treatment, which can straighten your teeth with braces or other devices. Cosmetic dental procedures include - Bleac " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gonorrhea ? ### Response: Gonorrhea is a sexually transmitted disease. It is most common in young adults. The bacteria that cause gonorrhea can infect the genital tract, mouth, or anus. You can get gonorrhea during vaginal, oral, or anal sex with an infected partner. A pregnant woman can pass it to her baby during childbirth. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Radiation Therapy ### Response: Summary : Radiation therapy is a cancer treatment. It uses high doses of radiation to kill cancer cells and stop them from spreading. About half of all cancer patients receive it. The radiation may be external, from special machines, or internal, from radioactive substances that a doctor places inside your body. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medicaid ### Response: Summary : Medicaid is government health insurance that helps many low-income people in the United States to pay their medical bills. The Federal government sets up general guidelines for the program, but each state has its own rules. Your state might require you to pay a part of the cost for some medical services. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pinkeye ? ### Response: Conjunctivitis is the medical name for pink eye. It involves inflammation of the outer layer of the eye and inside of the eyelid. It can cause swelling, itching, burning, discharge, and redness. Causes include - Bacterial or viral infection - Allergies - Substances that cause irritation - Contact lens products, eye drops, or eye ointments Pinkeye usually does not affect vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroblastoma ? ### Response: Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meningitis ? ### Response: Meningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis, which you get when a virus enters the body through the nose or mouth and travels to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carcinoid Tumors ? ### Response: Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow slowly and don't produce symptoms in the early stages. As a result, the average age of people diagnosed with digestive or lung carcinoids is about 60. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Potassium ### Response: Summary : Potassium is a mineral that the body needs to work normally. It helps nerves and muscles communicate. It also helps move nutrients into cells and waste products out of cells. A diet rich in potassium helps to offset some of sodium's harmful effects on blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cancer in Children ? ### Response: Cancer begins in the cells, which are the building blocks of your body. Normally, new cells form as you need them, replacing old cells that die. Sometimes, this process goes wrong. New cells form when you don't need them, and old cells don't die when they should. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Common Infant and Newborn Problems ### Response: Summary : It is hard when your baby is sick. Common health problems in babies include colds, coughs, fevers, and vomiting. Babies also commonly have skin problems, like diaper rash or cradle cap. Many of these problems are not serious. It is important to know how to help your sick baby, and to know the warning signs for more serious problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mesothelioma ? ### Response: The tissue that lines your lungs, stomach, heart, and other organs is called mesothelium. Mesothelioma is a tumor of that tissue. It usually starts in the lungs, but can also start in the abdomen or other organs. It can be benign (not cancer) or malignant (cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriasis ? ### Response: Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Genital Warts ? ### Response: Genital warts are a sexually transmitted disease (STD) caused by the human papillomavirus (HPV). The warts are soft, moist, pink, or flesh-colored bumps. You can have one or many of these bumps. In women, the warts usually occur in or around the vagina, on the cervix or around the anus. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hip Replacement ### Response: Summary : Hip replacement is surgery for people with severe hip damage. The most common cause of damage is osteoarthritis. Osteoarthritis causes pain, swelling, and reduced motion in your joints. It can interfere with your daily activities. If other treatments such as physical therapy, pain medicines, and exercise haven't helped, hip replacement surgery might be an option for you. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cardiac Rehabilitation ### Response: Summary : Cardiac rehabilitation (rehab) is a medically supervised program to help people who have - A heart attack - Angioplasty or coronary artery bypass grafting for coronary heart disease - A heart valve repair or replacement - A heart transplant or a lung transplant - Angina - Heart failure The goal is to help you return to an active life, and to reduce the risk of further heart problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Retinal Detachment ? ### Response: The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. It provides the sharp, central vision needed for reading, driving, and seeing fine detail. A retinal detachment lifts or pulls the retina from its normal position. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilms Tumor ? ### Response: Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can happen in adults. Having certain genetic conditions or birth defects can increase the risk of getting it. Children that are at risk should be screened for Wilms tumor every three months until they turn eight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastrointestinal Bleeding ? ### Response: Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Traumatic Brain Injury ? ### Response: Traumatic brain injury (TBI) happens when a bump, blow, jolt, or other head injury causes damage to the brain. Every year, millions of people in the U.S. suffer brain injuries. More than half are bad enough that people must go to the hospital. The worst injuries can lead to permanent brain damage or death. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Health Insurance ### Response: Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care. Many people in the United States get a health insurance policy through their employers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pericardial Disorders ? ### Response: The pericardium is a membrane, or sac, that surrounds your heart. It holds the heart in place and helps it work properly. Problems with the pericardium include - Pericarditis - an inflammation of the sac. It can be from a virus or other infection, a heart attack, heart surgery, other medical conditions, injuries, and certain medicines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adrenal Gland Disorders ? ### Response: The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tourette Syndrome ? ### Response: If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Enlarged Prostate (BPH) ? ### Response: The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine out of the body. As men age, their prostate grows bigger. If it gets too large, it can cause problems. An enlarged prostate is also called benign prostatic hyperplasia (BPH). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urinary Incontinence ? ### Response: Urinary incontinence (UI) is loss of bladder control. Symptoms can range from mild leaking to uncontrollable wetting. It can happen to anyone, but it becomes more common with age. Women experience UI twice as often as men. Most bladder control problems happen when muscles are too weak or too active. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dwarfism ? ### Response: A dwarf is a person of short stature - under 4' 10"" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Climate Change ### Response: Summary : Climate is the average weather in a place over a period of time. Climate change is major change in temperature, rainfall, snow, or wind patterns lasting for many years. It can be caused by natural factors or by human activities. Today climate changes are occurring at an increasingly rapid rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson's Disease ? ### Response: Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chickenpox ? ### Response: Chickenpox is an infection caused by the varicella-zoster virus. Most cases are in children under age 15, but older children and adults can get it. It spreads very easily from one person to another. The classic symptom of chickenpox is an uncomfortable, itchy rash. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Infant and Newborn Nutrition ### Response: Summary : Food provides the energy and nutrients that babies need to be healthy. For a baby, breast milk is best. It has all the necessary vitamins and minerals. Infant formulas are available for babies whose mothers are not able or decide not to breastfeed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vulvar Cancer ? ### Response: Vulvar cancer is a rare type of cancer. It forms in a woman's external genitals, called the vulva. The cancer usually grows slowly over several years. First, precancerous cells grow on vulvar skin. This is called vulvar intraepithelial neoplasia (VIN), or dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about African American Health ### Response: Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect African Americans. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Emergency Medical Services ? ### Response: If you get very sick or badly hurt and need help right away, you should use emergency medical services. These services use specially trained people and specially equipped facilities. You may need care in the hospital emergency room (ER). Doctors and nurses there treat emergencies, such as heart attacks and injuries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smoking ? ### Response: There's no way around it. Smoking is bad for your health. Smoking harms nearly every organ of the body. Cigarette smoking causes 87 percent of lung cancer deaths. It is also responsible for many other cancers and health problems. These include lung disease, heart and blood vessel disease, stroke and cataracts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smoking ? ### Response: There's no way around it. Smoking is bad for your health. Smoking harms nearly every organ of the body. Cigarette smoking causes 87 percent of lung cancer deaths. It is also responsible for many other cancers and health problems. These include lung disease, heart and blood vessel disease, stroke and cataracts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anxiety ? ### Response: Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cervix Disorders ? ### Response: The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. The cervix has a small opening that expands during childbirth. It also allows menstrual blood to leave a woman's body. Your health care provider may perform a Pap test during your health checkup to look for changes to the cells of the cervix, including cervical cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hand Injuries and Disorders ? ### Response: No matter how old you are or what you do for a living, you are always using your hands. When there is something wrong with them, you may not be able to do your regular activities. Hand problems include - Carpal tunnel syndrome - compression of a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Cancer ? ### Response: Lung cancer is one of the most common cancers in the world. It is a leading cause of cancer death in men and women in the United States. Cigarette smoking causes most lung cancers. The more cigarettes you smoke per day and the earlier you started smoking, the greater your risk of lung cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Legionnaires' Disease ? ### Response: Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for large buildings. The bacteria don't spread from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abscess ? ### Response: An abscess is a pocket of pus. You can get an abscess almost anywhere in your body. When an area of your body becomes infected, your body's immune system tries to fight the infection. White blood cells go to the infected area, collect within the damaged tissue, and cause inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lupus ? ### Response: If you have lupus, your immune system attacks healthy cells and tissues by mistake. This can damage your joints, skin, blood vessels and organs. There are many kinds of lupus. The most common type, systemic lupus erythematosus, affects many parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Assisted Living ### Response: Summary : Assisted living is for adults who need help with everyday tasks. They may need help with dressing, bathing, eating, or using the bathroom, but they don't need full-time nursing care. Some assisted living facilities are part of retirement communities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Syphilis ? ### Response: Syphilis is a sexually transmitted disease caused by bacteria. It infects the genital area, lips, mouth, or anus of both men and women. You usually get syphilis from sexual contact with someone who has it. It can also pass from mother to baby during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Asbestos ### Response: Summary : Asbestos is the name of a group of minerals with long, thin fibers. It was once used widely as insulation. It also occurs in the environment. Asbestos fibers are so small you can't see them. If you disturb asbestos, the fibers can float in the air. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mycobacterial Infections ? ### Response: Mycobacteria are a type of germ. There are many different kinds. The most common one causes tuberculosis. Another one causes leprosy. Still others cause infections that are called atypical mycobacterial infections. They aren't ""typical"" because they don't cause tuberculosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anal Cancer ? ### Response: The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus. Anal cancer is rare. It is more common in smokers and people over 50. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Post-Traumatic Stress Disorder ? ### Response: Post-traumatic stress disorder (PTSD) is a real illness. You can get PTSD after living through or seeing a traumatic event, such as war, a hurricane, sexual assault, physical abuse, or a bad accident. PTSD makes you feel stressed and afraid after the danger is over. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Marijuana ### Response: Summary : Marijuana is a green, brown, or gray mix of dried, crumbled parts from the marijuana plant. It can be rolled up and smoked like a cigarette or cigar or smoked in a pipe. Sometimes people mix it in food or inhale it using a vaporizer. Marijuana can cause problems with memory, learning, and behavior. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hispanic American Health ### Response: Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Hispanic Americans. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Infant and Newborn Development ### Response: Summary : When will my baby take his first step or say her first word? During their first year, babies start to develop skills they will use for the rest of their lives. The normal growth of babies can be broken down into the following areas: - Gross motor - controlling the head, sitting, crawling, maybe even starting to walk - Fine motor - holding a spoon, picking up a piece of cereal between thumb and finger - Sensory - seeing, hearing, tasting, touching and smelling - Language - starting to make sounds, learning some words, understanding what people say - Social - the ability to play with family members and other children Babies do not develop at the same rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polio and Post-Polio Syndrome ? ### Response: Polio is an infectious disease caused by a virus. The virus lives in an infected person's throat and intestines. It is most often spread by contact with the stool of an infected person. You can also get it from droplets if an infected person sneezes or coughs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Macular Degeneration ? ### Response: Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Macular Degeneration ? ### Response: Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chiari Malformation ? ### Response: Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fungal Infections ? ### Response: If you have ever had athlete's foot or a yeast infection, you can blame a fungus. A fungus is a primitive organism. Mushrooms, mold and mildew are examples. Fungi live in air, in soil, on plants and in water. Some live in the human body. Only about half of all types of fungi are harmful. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ulcerative Colitis ? ### Response: Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease. UC can happen at any age, but it usually starts between the ages of 15 and 30. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zika Virus ? ### Response: Zika is a virus that is spread by mosquitoes. A pregnant mother can pass it to her baby during pregnancy or around the time of birth. A man can spread it to his partner during sexual contact. There have also been reports that the virus has spread through blood transfusions. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Fires ### Response: Summary : Whether a fire happens in your home or in the wild, it can be very dangerous. Fire spreads quickly. There is no time to gather valuables or make a phone call. In just two minutes, a fire can become life-threatening. In five minutes, a home can be engulfed in flames. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Impetigo ? ### Response: Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or insect bite. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colonic Polyps ? ### Response: A polyp is an extra piece of tissue that grows inside your body. Colonic polyps grow in the large intestine, or colon. Most polyps are not dangerous. However, some polyps may turn into cancer or already be cancer. To be safe, doctors remove polyps and test them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Craniofacial Abnormalities ? ### Response: Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wounds and Injuries ? ### Response: An injury is damage to your body. It is a general term that refers to harm caused by accidents, falls, hits, weapons, and more. In the U.S., millions of people injure themselves every year. These injuries range from minor to life-threatening. Injuries can happen at work or play, indoors or outdoors, driving a car, or walking across the street. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tongue Disorders ? ### Response: Your tongue helps you taste, swallow, and chew. You also use it to speak. Your tongue is made up of many muscles. The upper surface contains your taste buds. Problems with the tongue include - Pain - Swelling - Changes in color or texture - Abnormal movement or difficulty moving the tongue - Taste problems These problems can have many different causes. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Child Development ### Response: Summary : As children grow older, they develop in several different ways. Child development includes physical, intellectual, social, and emotional changes. Children grow and mature at very different rates. It's hard to say what ""normal"" is. There can be big differences in height, weight, and build among healthy children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coma ? ### Response: A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Clinical Trials ### Response: Summary : Clinical trials are research studies that test how well new medical approaches work in people. Each study answers scientific questions and tries to find better ways to prevent, screen for, diagnose, or treat a disease. Clinical trials may also compare a new treatment to a treatment that is already available. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Interstitial Cystitis ? ### Response: Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently. It is far more common in women than in men. The symptoms vary from person to person. Some people may have pain without urgency or frequency. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gastroenteritis ? ### Response: Have you ever had the ""stomach flu?"" What you probably had was gastroenteritis - not a type of flu at all. Gastroenteritis is an inflammation of the lining of the intestines caused by a virus, bacteria or parasites. Viral gastroenteritis is the second most common illness in the U. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Blood ### Response: Summary : Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute Myeloid Leukemia ? ### Response: Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Child Safety ### Response: Summary : As parents, we want to keep our children safe from harm. Take steps to keep your children safe: - Install the right child safety seat in your car - Teach children how to cross the street safely - Make sure they wear the right gear and " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Critical Care ### Response: Summary : Critical care helps people with life-threatening injuries and illnesses. It might treat problems such as complications from surgery, accidents, infections, and severe breathing problems. It involves close, constant attention by a team of specially-trained health care providers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aphasia ? ### Response: Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about MRSA ### Response: Summary : MRSA stands for methicillin-resistant Staphylococcus aureus. It causes a staph infection (pronounced ""staff infection"") that is resistant to several common antibiotics. There are two types of infection. Hospital-associated MRSA happens to people in healthcare settings. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sepsis ? ### Response: Sepsis is a serious illness. It happens when your body has an overwhelming immune response to a bacterial infection. The chemicals released into the blood to fight the infection trigger widespread inflammation. This leads to blood clots and leaky blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Birthmarks ? ### Response: Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Infection Control ### Response: Summary : Every year, lives are lost because of the spread of infections in hospitals. Health care workers can take steps to prevent the spread of infectious diseases. These steps are part of infection control. Proper hand washing is the most effective way to prevent the spread of infections in hospitals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gaucher Disease ? ### Response: Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salmonella Infections ? ### Response: Salmonella is the name of a group of bacteria. In the United States, it is a common cause of foodborne illness. Salmonella occurs in raw poultry, eggs, beef, and sometimes on unwashed fruit and vegetables. You also can get infected after handling pets, especially reptiles like snakes, turtles, and lizards. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Patient Safety ### Response: Summary : You can help prevent medical errors by being an active member of your health care team. Research shows that patients who are more involved with their care tend to get better results. To reduce the risk of medical errors, you can - Ask questions if you have doubts or concerns. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tay-Sachs Disease ? ### Response: Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vitamin K ### Response: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin K helps your body by making proteins for healthy bones and tissues. It also makes proteins for blood clotting. If you don't have enough vitamin K, you may bleed too much. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Drugs and Young People ### Response: Summary : Drug abuse is a serious public health problem. It affects almost every community and family in some way. Drug abuse in children and teenagers may pose a greater hazard than in older people. This is because their brains are not yet fully developed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diarrhea ? ### Response: Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Lung Transplantation ### Response: Summary : A lung transplant removes a person's diseased lung and replaces it with a healthy one. The healthy lung comes from a donor who has died. Some people get one lung during a transplant. Other people get two. Lung transplants are used for people who are likely to die from lung disease within 1 to 2 years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Bronchitis ? ### Response: Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pleural Disorders ? ### Response: Your pleura is a large, thin sheet of tissue that wraps around the outside of your lungs and lines the inside of your chest cavity. Between the layers of the pleura is a very thin space. Normally it's filled with a small amount of fluid. The fluid helps the two layers of the pleura glide smoothly past each other as your lungs breathe air in and out. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Exercise for Children ### Response: Summary : Like adults, kids need exercise. Most children need at least an hour of physical activity every day. Regular exercise helps children - Feel less stressed - Feel better about themselves - Feel more ready to learn in school - Keep a healthy weight - Build and keep healthy bones, muscles and joints - Sleep better at night As kids spend more time watching TV, they spend less time running and playing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carotid Artery Disease ? ### Response: Your carotid arteries are two large blood vessels in your neck. They supply your brain with blood. If you have carotid artery disease, the arteries become narrow, usually because of atherosclerosis. This is the buildup of cholesterol and other material in an artery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemorrhagic Stroke ? ### Response: A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Hemorrhagic stroke is the less common type. It happens when a blood vessel breaks and bleeds into the brain. Within minutes, brain cells begin to die. Causes include a bleeding aneurysm, an arteriovenous malformation (AVM), or an artery wall that breaks open. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bone Marrow Diseases ? ### Response: Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eczema ? ### Response: Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. Most types cause dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Scratching the skin can cause it to turn red, and to swell and itch even more. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ear Infections ? ### Response: Ear infections are the most common reason parents bring their child to a doctor. Three out of four children will have at least one ear infection by their third birthday. Adults can also get ear infections, but they are less common. The infection usually affects the middle ear and is called otitis media. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fainting ? ### Response: Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may ""white out"" or ""black out."" Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ischemic Stroke ? ### Response: A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Ischemic stroke is the most common type. It is usually caused by a blood clot that blocks or plugs a blood vessel in the brain. This keeps blood from flowing to the brain. Within minutes, brain cells begin to die. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Disaster Preparation and Recovery ### Response: Summary : Preparing for a disaster can reduce the fear, anxiety and losses that disasters cause. A disaster can be a natural disaster, like a hurricane, tornado, flood or earthquake. It might also be man-made, like a bioterrorist attack or chemical spill. You should know the risks and danger signs of different types of disasters. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemophilia ? ### Response: Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Heroin ### Response: Summary : Heroin is a white or brown powder or a black, sticky goo. It's made from morphine, a natural substance in the seedpod of the Asian poppy plant. It can be mixed with water and injected with a needle. Heroin can also be smoked or snorted up the nose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Restless Legs ? ### Response: Restless legs syndrome (RLS) causes a powerful urge to move your legs. Your legs become uncomfortable when you are lying down or sitting. Some people describe it as a creeping, crawling, tingling, or burning sensation. Moving makes your legs feel better, but not for long. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colorectal Cancer ? ### Response: The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pesticides ### Response: Summary : Pests live where they are not wanted or cause harm to crops, people, or animals. Pesticides can help get rid of them. Pesticides are not just insect killers. They also include chemicals to control weeds, rodents, mildew, germs, and more. Many household products contain pesticides. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Children's Health ### Response: Summary : Your child's health includes physical, mental and social well-being. Most parents know the basics of keeping children healthy, like offering them healthy foods, making sure they get enough sleep and exercise and insuring their safety. It is also important for children to get regular checkups with their health care provider. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Prostate Cancer Screening ### Response: Summary : The prostate is the gland below a man's bladder that produces fluid for semen. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. There is no standard screening test for prostate cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Understanding Medical Research ### Response: Summary : It seems to happen almost every day - you hear about the results of a new medical research study. Sometimes the results of one study seem to disagree with the results of another study. It's important to be critical when reading or listening to reports of new medical findings. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Testicular Cancer ? ### Response: Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. You can get cancer in one or both testicles. Testicular cancer mainly affects young men between the ages of 20 and 39. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blood Disorders ? ### Response: Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asthma in Children ? ### Response: Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. In the United States, about 20 million people have asthma. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Weight Loss Surgery ### Response: Summary : Weight loss surgery helps people with extreme obesity to lose weight. It may be an option if you cannot lose weight through diet and exercise or have serious health problems caused by obesity. There are different types of weight loss surgery. They often limit the amount of food you can take in. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sjogren's Syndrome ? ### Response: Sjogren's syndrome is a disease that causes dryness in your mouth and eyes. It can also lead to dryness in other places that need moisture, such as your nose, throat and skin. Most people who get Sjogren's syndrome are older than 40. Nine of 10 are women. Sjogren's syndrome is sometimes linked to rheumatic problems such as rheumatoid arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Nerve Disorders ? ### Response: Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. There are more than 100 kinds of peripheral nerve disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pancreatitis ? ### Response: The pancreas is a large gland behind the stomach and close to the first part of the small intestine. It secretes digestive juices into the small intestine through a tube called the pancreatic duct. The pancreas also releases the hormones insulin and glucagon into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Emphysema ? ### Response: Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Streptococcal Infections ? ### Response: Strep is short for Streptococcus, a type of bacteria. There are two types: group A and group B. Group A strep causes - Strep throat - a sore, red throat, sometimes with white spots on the tonsils - Scarlet fever - an illness that follows strep throat. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Scars ? ### Response: A scar is a permanent patch of skin that grows over a wound. It forms when your body heals itself after a cut, scrape, burn, or sore. You can also get scars from surgery that cuts through the skin, infections like chickenpox, or skin conditions like acne. Scars are often thicker, as well as pinker, redder, or shinier, than the rest of your skin. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medicines and Children ### Response: Summary : When it comes to taking medicines, kids aren't just small adults. For prescription medicines, there is a ""Pediatric"" section of the label. It says whether the medication has been studied for its effects on children. It also tells you what ages have been studied. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sickle Cell Anemia ? ### Response: Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Reproductive Hazards ? ### Response: Both the male and female reproductive systems play a role in pregnancy. Problems with these systems can affect fertility and the ability to have children. Something that affects reproductive health is called a reproductive hazard. Examples include: - Radiation - Metals such as lead and mercury - Chemicals such as pesticides - Cigarettes - Some viruses - Alcohol For men, a reproductive hazard can affect the sperm. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Animal Diseases and Your Health ? ### Response: Animal diseases that people can catch are called zoonoses. Many diseases affecting humans can be traced to animals or animal products. You can get a disease directly from an animal, or indirectly, through the environment. Farm animals can carry diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anaphylaxis ? ### Response: Anaphylaxis is a serious allergic reaction. It can begin very quickly, and symptoms may be life-threatening. The most common causes are reactions to foods (especially peanuts), medications, and stinging insects. Other causes include exercise and exposure to latex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Birth Defects ? ### Response: A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bad Breath ? ### Response: There are many reasons why you might have bad breath. You can get it if you don't brush and floss regularly. Bacteria that build up in your mouth and between your teeth produce the bad odor. Other problems in your mouth, such as gum disease, dry mouth or cavities, may also cause it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Child Sexual Abuse ? ### Response: Sexual abuse is one form of child abuse. It includes a wide range of actions between a child and an adult or older child. Often these involve body contact, but not always. Exposing one's genitals to children or pressuring them for sex is sexual abuse. Using a child for pornography is also sexual abuse. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Disabilities ? ### Response: Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Throat Disorders ? ### Response: Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx. The technical name for throat is pharynx. Throat problems are common. You've probably had a sore throat. The cause is usually a viral infection, but other causes include allergies, infection with strep bacteria or the upward movement of stomach acids into the esophagus, called GERD. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Plastic and Cosmetic Surgery ### Response: Summary : Surgeons can reshape the appearance of body parts through cosmetic surgery. Some of the most common body parts people want to improve through surgery include - Breasts: Increase or reduce the size of breasts or reshape sagging breasts - " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Quitting Smoking ### Response: Summary : Tobacco use is the most common preventable cause of death. About half of the people who don't quit smoking will die of smoking-related problems. Quitting smoking is important for your health. Soon after you quit, your circulation begins to improve, and your blood pressure starts to return to normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chemical Emergencies ? ### Response: When a hazardous chemical has been released, it may harm people's health. Chemical releases can be unintentional, as in the case of an industrial accident. They could also be planned, as in the case of a terrorist attack with a chemical weapon. Some hazardous chemicals have been developed by military organizations for use in warfare. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Benign Tumors ? ### Response: Tumors are abnormal growths in your body. They are made up of extra cells. Normally, cells grow and divide to form new cells as your body needs them. When cells grow old, they die, and new cells take their place. Sometimes, this process goes wrong. New cells form when your body does not need them, and old cells do not die when they should. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Health Occupations ### Response: Summary : Every day, around the clock, people who work in the health care industry provide care for millions of people, from newborns to the very ill. In fact, the health care industry is one of largest providers of jobs in the United States. Many health jobs are in hospitals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Falls ? ### Response: A fall can change your life. If you're elderly, it can lead to disability and a loss of independence. If your bones are fragile from osteoporosis, you could break a bone, often a hip. But aging alone doesn't make people fall. Diabetes and heart disease affect balance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinal Cord Diseases ? ### Response: Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. It is protected by your vertebrae, which are the bone disks that make up your spine. If you have an accident that damages the vertebrae or other parts of the spine, this can also injure the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pituitary Tumors ? ### Response: Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the ""master control gland"" - it makes hormones that affect growth and the functions of other glands in the body. Pituitary tumors are common, but often they don't cause health problems. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Germs and Hygiene ### Response: Summary : When you cough or sneeze, you send tiny germ-filled droplets into the air. Colds and flu usually spread that way. You can help stop the spread of germs by - Covering your mouth and nose when you sneeze or cough. Sneeze or cough into your elbow, not your hands. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Appendicitis ? ### Response: The appendix is a small, tube-like organ attached to the first part of the large intestine. It is located in the lower right part of the abdomen. It has no known function. A blockage inside of the appendix causes appendicitis. The blockage leads to increased pressure, problems with blood flow, and inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glaucoma ? ### Response: Glaucoma is a group of diseases that can damage the eye's optic nerve. It is a leading cause of blindness in the United States. It usually happens when the fluid pressure inside the eyes slowly rises, damaging the optic nerve. Often there are no symptoms at first. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cancer ? ### Response: Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms new cells as you need them, replacing old cells that die. Sometimes this process goes wrong. New cells grow even when you don't need them, and old cells don't die when they should. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Health Screening ### Response: Summary : Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they're easier to treat. You can get some screenings in your doctor's office. Others need special equipment, so you may need to go to a different office or clinic. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Tubal Ligation ### Response: Summary : Tubal ligation (getting your ""tubes tied"") is a type of surgery. It prevents a woman from getting pregnant. It is a permanent form of birth control. The surgery closes the fallopian tubes, which connect the ovaries to the uterus. It usually takes about 30 minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Interstitial Lung Diseases ? ### Response: Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis. Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arteriovenous Malformations ? ### Response: Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpha-1 Antitrypsin Deficiency ? ### Response: Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Seniors' Health ### Response: Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age.It is important to understand what to expect. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Athlete's Foot ? ### Response: Athlete's foot is a common infection caused by a fungus. It most often affects the space between the toes. Symptoms include itching, burning, and cracked, scaly skin between your toes. You can get athlete's foot from damp surfaces, such as showers, swimming pools, and locker room floors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leg Injuries and Disorders ? ### Response: Your legs are made up of bones, blood vessels, muscles, and other connective tissue. They are important for motion and standing. Playing sports, running, falling, or having an accident can damage your legs. Common leg injuries include sprains and strains, joint dislocations, and fractures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelvic Support Problems ? ### Response: The pelvic floor is a group of muscles and other tissues that form a sling or hammock across the pelvis. In women, it holds the uterus, bladder, bowel, and other pelvic organs in place so that they can work properly. The pelvic floor can become weak or be injured. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Fetal Health and Development ### Response: Summary : A normal pregnancy lasts nine months. Each three-month period of pregnancy is called a trimester. During each trimester, the fetus grows and develops. There are specific prenatal tests to monitor both the mother's health and fetal health during each trimester. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parathyroid Disorders ? ### Response: Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peripheral Arterial Disease ? ### Response: Peripheral arterial disease (PAD) happens when there is a narrowing of the blood vessels outside of your heart. The cause of PAD is atherosclerosis. This happens when plaque builds up on the walls of the arteries that supply blood to the arms and legs. Plaque is a substance made up of fat and cholesterol. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thymus Cancer ? ### Response: The thymus is a small organ in your upper chest, under your breastbone. Before birth and during childhood, the thymus helps the body make a type of white blood cell. These cells help protect you from infections. Cancer of the thymus is rare. You are more likely to get it if you have other diseases such as myasthenia gravis, lupus or rheumatoid arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Listeria Infections ? ### Response: Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Snoring ? ### Response: Snoring is the sound you make when your breathing is blocked while you are asleep. The sound is caused by tissues at the top of your airway that strike each other and vibrate. Snoring is common, especially among older people and people who are overweight. When severe, snoring can cause frequent awakenings at night and daytime sleepiness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COPD ? ### Response: COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Immunization ### Response: Summary : Shots may hurt a little, but the diseases they can prevent are a lot worse. Some are even life-threatening. Immunization shots, or vaccinations, are essential. They protect against things like measles, mumps, rubella, hepatitis B, polio, tetanus, diphtheria, and pertussis (whooping cough). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung Diseases ? ### Response: When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Toe Injuries and Disorders ? ### Response: Fourteen of the 26 bones in your feet are in your toes. The toes, particularly your big toe, help you move and keep your balance. Playing sports, running, and receiving a blow to the foot can damage your toes. Wearing shoes that are too loose or too tight can also cause toe problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Viral Infections ? ### Response: Viruses are capsules with genetic material inside. They are very tiny, much smaller than bacteria. Viruses cause familiar infectious diseases such as the common cold, flu and warts. They also cause severe illnesses such as HIV/AIDS, smallpox and hemorrhagic fevers. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Financial Assistance ### Response: Summary : Health care can be costly. If you have health insurance, it usually pays at least part of your medical costs. If you don't have insurance or need help with costs that aren't covered, financial assistance might be available. Certain government programs and nonprofit organizations can help. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Toddler Health ### Response: Summary : Most young children get sick. It is hard for parents to know what is serious. You can learn what the common warning signs are. In the end, trust your intuition. If you are worried about your toddler, call your health care provider right away. Well-child visits are important to your toddler's health. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rashes ? ### Response: A rash is an area of irritated or swollen skin. Many rashes are itchy, red, painful, and irritated. Some rashes can also lead to blisters or patches of raw skin. Rashes are a symptom of many different medical problems. Other causes include irritating substances and allergies. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cervical Cancer Screening ### Response: Summary : The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. Cervical cancer screening is usually part of a woman's health checkup. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Piercing and Tattoos ? ### Response: Piercings and tattoos are body decorations that go back to ancient times. Body piercing involves making a hole in the skin so that you can insert jewelry. This is often in the earlobe, but can be in other parts of the body. Tattoos are designs on the skin made with needles and colored ink. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Flu ? ### Response: Flu is a respiratory infection caused by a number of viruses. The viruses pass through the air and enter your body through your nose or mouth. Between 5% and 20% of people in the U.S. get the flu each year. The flu can be serious or even deadly for elderly people, newborn babies, and people with certain chronic illnesses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fistulas ? ### Response: A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pinworms ? ### Response: Pinworms are small parasites that can live in the colon and rectum. You get them when you swallow their eggs. The eggs hatch inside your intestines. While you sleep, the female pinworms leave the intestines through the anus and lay eggs on nearby skin. Pinworms spread easily. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) G6PD Deficiency ? ### Response: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vascular Diseases ? ### Response: The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pregnancy ### Response: Summary : So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Infant and Newborn Care ### Response: Summary : Going home with a new baby is exciting, but it can be scary, too. Newborns have many needs, like frequent feedings and diaper changes. Babies can have health issues that are different from older children and adults, like diaper rash and cradle cap. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Women's Health ### Response: Summary : Women have unique health issues. And some of the health issues that affect both men and women can affect women differently. Unique issues include pregnancy, menopause, and conditions of the female organs. Women can have a healthy pregnancy by getting early and regular prenatal care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vaginal Diseases ? ### Response: Vaginal problems are some of the most common reasons women go to the doctor. They may have symptoms such as - Itching - Burning - Pain - Abnormal bleeding - Discharge Often, the problem is vaginitis, an inflammation of the vagina. The main symptom is smelly vaginal discharge, but some women have no symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intestinal Cancer ? ### Response: Your small intestine is part of your digestive system. It is a long tube that connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet or having Crohn's disease, celiac disease, or a history of colonic polyps can increase your risk. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Minerals ### Response: Summary : Minerals are important for your body to stay healthy. Your body uses minerals for many different jobs, including building bones, making hormones and regulating your heartbeat. There are two kinds of minerals: macrominerals and trace minerals. Macrominerals are minerals your body needs in larger amounts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple Sclerosis ? ### Response: Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infectious Diseases ? ### Response: Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Breast Diseases ? ### Response: Most women experience breast changes at some time. Your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk). If you have a breast lump, pain, discharge or skin irritation, see your health care provider. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myasthenia Gravis ? ### Response: Myasthenia gravis is disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cancer Chemotherapy ### Response: Summary : Normally, your cells grow and die in a controlled way. Cancer cells keep forming without control. Chemotherapy is drug therapy that can kill these cells or stop them from multiplying. However, it can also harm healthy cells, which causes side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eye Injuries ? ### Response: The structure of your face helps protect your eyes from injury. Still, injuries can damage your eye, sometimes severely enough that you could lose your vision. Most eye injuries are preventable. If you play sports or work in certain jobs, you may need protection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes Insipidus ? ### Response: Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems and high blood sugar. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Diabetes Medicines ### Response: Summary : Diabetes means your blood glucose, or blood sugar, levels are too high. If you can't control your diabetes with wise food choices and physical activity, you may need diabetes medicines. The kind of medicine you take depends on your type of diabetes, your schedule, and your other health conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cryptosporidiosis ? ### Response: Cryptosporidiosis (crypto) is an illness caused by a parasite. The parasite lives in soil, food and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. The most common symptom of crypto is watery diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Giant Cell Arteritis ? ### Response: Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schizophrenia ? ### Response: Schizophrenia is a serious brain illness. People who have it may hear voices that aren't there. They may think other people are trying to hurt them. Sometimes they don't make sense when they talk. The disorder makes it hard for them to keep a job or take care of themselves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porphyria ? ### Response: Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes ? ### Response: Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Premature Ovarian Failure ? ### Response: Premature ovarian failure (POF) is when a woman's ovaries stop working before she is 40. POF is different from premature menopause. With premature menopause, your periods stop before age 40. You can no longer get pregnant. The cause can be natural or it can be a disease, surgery, chemotherapy, or radiation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rh Incompatibility ? ### Response: There are four major blood types: A, B, O, and AB. The types are based on substances on the surface of the blood cells. Another blood type is called Rh. Rh factor is a protein on red blood cells. Most people are Rh-positive; they have Rh factor. Rh-negative people don't have it. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Organ Transplantation ### Response: Summary : You may need an organ transplant if one of your organs has failed. This can happen because of illness or injury. When you have an organ transplant, doctors remove an organ from another person and place it in your body. The organ may come from a living donor or a donor who has died. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cough ? ### Response: Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or acute bronchitis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wrist Injuries and Disorders ? ### Response: Your wrist is made up of eight small bones known as carpals. They support a tube that runs through your wrist. That tube, called the carpal tunnel, has tendons and a nerve inside. It is covered by a ligament, which holds it in place. Wrist pain is common. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Skin Cancer ? ### Response: Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelvic Inflammatory Disease ? ### Response: Pelvic inflammatory disease (PID) is an infection and inflammation of the uterus, ovaries, and other female reproductive organs. It causes scarring in these organs. This can lead to infertility, ectopic pregnancy, pelvic pain, abscesses, and other serious problems. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Inhalants ### Response: Summary : If you're a parent, you may fear that your kids will use drugs such as marijuana or LSD. But you may not realize the dangers of substances in your own home. Household products such as glues, hair sprays, paints and lighter fluid can be drugs for kids in search of a quick high. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphedema ? ### Response: Lymphedema is the name of a type of swelling. It happens when lymph builds up in your body's soft tissues. Lymph is a fluid that contains white blood cells that defend against germs. It can build up when the lymph system is damaged or blocked. It usually happens in the arms or legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukemia ? ### Response: Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Blood Sugar ### Response: Summary : Blood sugar, or glucose, is the main sugar found in your blood. It comes from the food you eat, and is your body's main source of energy. Your blood carries glucose to all of your body's cells to use for energy. Diabetes is a disease in which your blood sugar levels are too high. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Sexual Problems in Women ### Response: Summary : There are many problems that can keep a woman from enjoying sex. They include - Lack of sexual desire - Inability to become aroused - Lack of orgasm, or sexual climax - Painful intercourse These problems may have physical or psychological causes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mobility Aids ? ### Response: Mobility aids help you walk or move from place to place if you are disabled or have an injury. They include - Crutches - Canes - Walkers - Wheelchairs - Motorized scooters You may need a walker or cane if you are at risk of falling. If you need to keep your body weight off your foot, ankle or knee, you may need crutches. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemorrhagic Fevers ? ### Response: Viral hemorrhagic fevers (VHFs) are a group of illnesses caused by four families of viruses. These include the Ebola and Marburg, Lassa fever, and yellow fever viruses. VHFs have common features: they affect many organs, they damage the blood vessels, and they affect the body's ability to regulate itself. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Headache ? ### Response: Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic Kidney Disease ? ### Response: You have two kidneys, each about the size of your fist. Their main job is to filter wastes and excess water out of your blood to make urine. They also keep the body's chemical balance, help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged and can't filter blood as they should. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Canker Sores ? ### Response: Canker sores are small, round sores in your mouth. They can be on the inside of your cheek, under your tongue, or in the back of your throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Campylobacter Infections ? ### Response: Campylobacter infection is a common foodborne illness. You get it from eating raw or undercooked poultry. You can also get it from coming in contact with contaminated packages of poultry. Symptoms include - Diarrhea - Cramping - Abdominal pain - Fever - Nausea and vomiting Some infected people don't have any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Rural Health Concerns ### Response: Summary : People in rural areas face some different health issues than people who live in towns and cities. Getting health care can be a problem when you live in a remote area. You might not be able to get to a hospital quickly in an emergency. You also might not want to travel long distances to get routine checkups and screenings. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive Supranuclear Palsy ? ### Response: Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bruises ? ### Response: A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin. Bruises are often painful and swollen. You can get skin, muscle and bone bruises. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Vital Signs ### Response: Summary : Your vital signs show how well your body is functioning. They are usually measured at doctor's offices, often as part of a health checkup, or during an emergency room visit. They include - Blood pressure, which measures the force of your blood pushing against the walls of your arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endometriosis ? ### Response: Endometriosis is a problem affecting a woman's uterus - the place where a baby grows when she's pregnant. Endometriosis is when the kind of tissue that normally lines the uterus grows somewhere else. It can grow on the ovaries, behind the uterus or on the bowels or bladder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Melanoma ? ### Response: Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or ""ugly looking. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Mercury ### Response: Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Platelet Disorders ? ### Response: Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meniere's Disease ? ### Response: Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ears called tinnitus, hearing loss that comes and goes and the feeling of ear pressure or pain. It usually affects just one ear. It is a common cause of hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hair Loss ? ### Response: You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sports Injuries ? ### Response: Exercising is good for you, but sometimes you can injure yourself when you play sports or exercise. Accidents, poor training practices, or improper gear can cause them. Some people get hurt because they are not in shape. Not warming up or stretching enough can also lead to injuries. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Preconception Care ### Response: Summary : If you are trying to have a baby or are just thinking about it, it is not too early to prepare for a safe pregnancy and a healthy baby. You should speak with your healthcare provider about preconception care. Preconception care is care you receive before you get pregnant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carbon Monoxide Poisoning ? ### Response: Carbon monoxide (CO) is a gas that has no odor or color. But it is very dangerous. It can cause sudden illness and death. CO is found in combustion fumes, such as those made by cars and trucks, lanterns, stoves, gas ranges and heating systems. CO from these fumes can build up in places that don't have a good flow of fresh air. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Swallowing Disorders ? ### Response: If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Tsunamis ### Response: Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Child Dental Health ### Response: Summary : Healthy teeth are important to your child's overall health. From the time your child is born, there are things you can do to promote healthy teeth and prevent cavities. For babies, you should clean teeth with a soft, clean cloth or baby's toothbrush. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) E. Coli Infections ? ### Response: E. coli is the name of a type of bacteria that lives in your intestines. Most types of E. coli are harmless. However, some types can make you sick and cause diarrhea. One type causes travelers' diarrhea. The worst type of E. coli causes bloody diarrhea, and can sometimes cause kidney failure and even death. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher Syndrome ? ### Response: Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision. There are three types of Usher syndrome: - People with type I are deaf from birth and have severe balance problems from a young age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian Cysts ? ### Response: A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chikungunya ? ### Response: Chikungunya is a virus that spread by the same kinds of mosquitoes that spread dengue and Zika virus. Rarely, it can spread from mother to newborn around the time of birth. It may also possibly spread through infected blood. There have been outbreaks of chikungunya virus in Africa, Asia, Europe, the Indian and Pacific Oceans, the Caribbean, and Central and South America. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cancer Alternative Therapies ### Response: Summary : You have many choices to make about your cancer treatment. One choice you might be thinking about is complementary and alternative medicine (CAM). CAM is the term for medical products and practices that are not part of standard care. Examples of CAM therapies are acupuncture, chiropractic, and herbal medicines. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Urine and Urination ### Response: Summary : Your kidneys make urine by filtering wastes and extra water from your blood. The waste is called urea. Your blood carries it to the kidneys. From the kidneys, urine travels down two thin tubes called ureters to the bladder. The bladder stores urine until you are ready to urinate. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Palliative Care ### Response: Summary : Palliative care is treatment of the discomfort, symptoms, and stress of serious illness. It provides relief from distressing symptoms including - Pain - Shortness of breath - Fatigue - Constipation - Nausea - Loss of appetite - Problems with sleep It can also help you deal with the side effects of the medical treatments you're receiving. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hiatal Hernia ? ### Response: A hiatal hernia is a condition in which the upper part of the stomach bulges through an opening in the diaphragm. The diaphragm is the muscle wall that separates the stomach from the chest. The diaphragm helps keep acid from coming up into the esophagus. When you have a hiatal hernia, it's easier for the acid to come up. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tracheal Disorders ? ### Response: Your trachea, or windpipe, is one part of your airway system. Airways are pipes that carry oxygen-rich air to your lungs. They also carry carbon dioxide, a waste gas, out of your lungs. When you inhale, air travels from your nose, through your larynx, and down your windpipe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson Disease ? ### Response: Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abortion ? ### Response: An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional. The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers advise counseling. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Personal Health Records ### Response: Summary : You've probably seen your chart at your doctor's office. In fact, you may have charts at several doctors' offices. If you've been in the hospital, you have a chart there, too. These charts are your medical records. They may be on paper or electronic. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tetanus, Diphtheria, and Pertussis Vaccines ? ### Response: Tetanus, diphtheria, and pertussis (whooping cough) are serious bacterial infections. Tetanus causes painful tightening of the muscles, usually all over the body. It can lead to ""locking"" of the jaw. Diphtheria usually affects the nose and throat. Whooping cough causes uncontrollable coughing. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Blood Thinners ### Response: Summary : If you have some kinds of heart or blood vessel disease, or if you have poor blood flow to your brain, your doctor may recommend that you take a blood thinner. Blood thinners reduce the risk of heart attack and stroke by reducing the formation of blood clots in your arteries and veins. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Teen Violence ### Response: Summary : Teen violence refers to harmful behaviors that can start early and continue into young adulthood. The young person can be a victim, an offender, or a witness to the violence. Violent acts can include - Bullying - Fighting, including punching, kicking, slapping, or hitting - Use of weapons such as guns or knives Some violent acts can cause more emotional harm than physical harm. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteoarthritis ? ### Response: Osteoarthritis is the most common form of arthritis. It causes pain, swelling, and reduced motion in your joints. It can occur in any joint, but usually it affects your hands, knees, hips or spine. Osteoarthritis breaks down the cartilage in your joints. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sudden Infant Death Syndrome ? ### Response: Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS ""crib death"" because many babies who die of SIDS are found in their cribs. SIDS is the leading cause of death in children between one month and one year old. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Pregnancy and Nutrition ### Response: Summary : When you're pregnant, eating healthy foods is more important than ever. You need more protein, iron, calcium, and folic acid than you did before pregnancy. You also need more calories. But ""eating for two"" doesn't mean eating twice as much. It means that the foods you eat are the main source of nutrients for your baby. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Toddler Nutrition ### Response: Summary : Food provides the energy and nutrients that young children need to be healthy. Toddlers are learning to feed themselves and to eat new foods. They should eat a variety of foods from all of the food groups. Each day, toddlers need enough nutrien " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cardiomyopathy ? ### Response: Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salivary Gland Cancer ? ### Response: Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coronavirus Infections ? ### Response: Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Elbow Injuries and Disorders ? ### Response: Your elbow joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the elbow joint move. When any of these structures is hurt or diseased, you have elbow problems. Many things can make your elbow hurt. A common cause is tendinitis, an inflammation or injury to the tendons that attach muscle to bone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Malnutrition ? ### Response: Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition. Causes of malnutrition include: - Lack of specific nutrients in your diet. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medication Errors ### Response: Summary : Medicines cure infectious diseases, prevent problems from chronic diseases, and ease pain. But medicines can also cause harmful reactions if not used correctly. Errors can happen in the hospital, at the doctor's office, at the pharmacy, or at home. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) HIV/AIDS and Pregnancy ? ### Response: If you have HIV/AIDS and find out you are pregnant or think you may be pregnant, you should let your health care provider know as soon as possible. Some HIV/AIDS medicines may harm your baby. Your health care provider may want you to take different medicines or change the doses. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Orthodontia ### Response: Summary : Some people have naturally straight teeth that fit together. But if you have problems with your bite or the spacing of your teeth, you may need orthodontic care. Orthodontia is the branch of dentistry that deals with abnormalities of the teeth and jaw. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Hazardous Waste ### Response: Summary : Even if you use them properly, many chemicals can still harm human health and the environment. When you throw these substances away, they become hazardous waste. Some hazardous wastes come from products in our homes. Our garbage can include such hazardous wastes as old batteries, bug spray cans and paint thinner. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tooth Disorders ? ### Response: Your teeth are made of a hard, bonelike material. Inside the tooth are nerves and blood vessels. You need your teeth for many activities you may take for granted. These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sun Exposure ? ### Response: Ultraviolet (UV) rays are an invisible form of radiation. They can pass through your skin and damage your skin cells. Sunburns are a sign of skin damage. Suntans aren't healthy, either. They appear after the sun's rays have already killed some cells and damaged others. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sun Exposure ? ### Response: Ultraviolet (UV) rays are an invisible form of radiation. They can pass through your skin and damage your skin cells. Sunburns are a sign of skin damage. Suntans aren't healthy, either. They appear after the sun's rays have already killed some cells and damaged others. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vision Impairment and Blindness ? ### Response: If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. Activities like reading, shopping, cooking, writing, and watching TV may be hard to do. The leading causes of low vision and blindness in the United States are age-related eye diseases: macular degeneration, cataract and glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Joint Disorders ? ### Response: A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including - Arthritis - inflammation of a joint. It causes pain, stiffness, and swelling. Over time, the joint can become severely damaged. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Flu Shot ### Response: Summary : Flu is a respiratory infection caused by a number of viruses. Most people with the flu get better on their own. But it can be serious. It can cause complications and sometimes even death. Getting the flu vaccine every year is the best way to lower your chance of getting the flu and spreading it to others. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prescription Drug Abuse ? ### Response: If you take a medicine in a way that is different from what the doctor prescribed, it is called prescription drug abuse. It could be - Taking a medicine that was prescribed for someone else - Taking a larger dose than you are supposed to - Taking the medicine in a different way than you are supposed to. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about HIV/AIDS in Women ### Response: Summary : HIV, the human immunodeficiency virus, kills or damages cells of the body's immune system. The most advanced stage of infection with HIV is AIDS, which stands for acquired immunodeficiency syndrome. HIV often spreads through unprotected sex with an infected person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hearing Problems in Children ? ### Response: Most children hear and listen from the moment they are born. They learn to talk by imitating the sounds around them and the voices of their parents and caregivers. But about 2 or 3 out of every 1,000 children in the United States are born deaf or hard-of-hearing. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Islet Cell Transplantation ### Response: Summary : Islets are cells found in clusters throughout the pancreas. They are made up of several types of cells. One of these is beta cells, which make insulin. Insulin is a hormone that helps the body use glucose for energy. Islet cell transplantation transfers cells from an organ donor into the body of another person. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Sexual Problems in Men ### Response: Summary : Many men have sexual problems. They become more common as men age. Problems can include - Erectile dysfunction - Reduced or lost interest in sex - Problems with ejaculation - Low testosterone Stress, illness, medicines, or emotional problems may also be factors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infectious Mononucleosis ? ### Response: Infectious mononucleosis, or ""mono"", is an infection usually caused by the Epstein-Barr virus. The virus spreads through saliva, which is why it's sometimes called ""kissing disease."" Mono occurs most often in teens and young adults. However, you can get it at any age. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Genes and Gene Therapy ### Response: Summary : Genes are the building blocks of inheritance. Passed from parent to child, they contain instructions for making proteins. If genes don't produce the right proteins or don't produce them correctly, a child can have a genetic disorder. Gene therapy is an experimental technique that uses genes to treat or prevent disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liver Diseases ? ### Response: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moles ? ### Response: Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lyme Disease ? ### Response: Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom is usually a rash, which may look like a bull's eye. As the infection spreads, you may have - A fever - A headache - Muscle and joint aches - A stiff neck - Fatigue Lyme disease can be hard to diagnose because you may not have noticed a tick bite. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childbirth ? ### Response: When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out. During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Head Injuries ? ### Response: Chances are you've bumped your head before. Usually, the injury is minor because your skull is hard and it protects your brain. But other head injuries can be more severe, such as a skull fracture, concussion, or traumatic brain injury. Head injuries can be open or closed. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Cholesterol ### Response: Summary : Cholesterol is a waxy, fat-like substance that occurs naturally in all parts of the body. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can combine with other substances in the blood and stick to the walls of your arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Huntington's Disease ? ### Response: Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ectopic Pregnancy ? ### Response: The uterus, or womb, is the place where a baby grows when a woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in the wrong place, outside the uterus, usually in the fallopian tubes. The result is usually a miscarriage. Ectopic pregnancy can be a medical emergency if it ruptures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Corns and Calluses ? ### Response: Corns and calluses are caused by pressure or friction on your skin. They often appear on feet where the bony parts of your feet rub against your shoes. Corns usually appear on the tops or sides of toes while calluses form on the soles of feet. Calluses also can appear on hands or other areas that are rubbed or pressed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mood Disorders ? ### Response: Most people feel sad or irritable from time to time. They may say they're in a bad mood. A mood disorder is different. It affects a person's everyday emotional state. Nearly one in ten people aged 18 and older have mood disorders. These include depression and bipolar disorder (also called manic depression). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tuberculosis ? ### Response: Tuberculosis (TB) is a disease caused by bacteria called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but they can also damage other parts of the body. TB spreads through the air when a person with TB of the lungs or throat coughs, sneezes, or talks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypothermia ? ### Response: Cold weather can affect your body in different ways. You can get frostbite, which is frozen body tissue. Your body can also lose heat faster than you can produce it. The result is hypothermia, or abnormally low body temperature. It can make you sleepy, confused and clumsy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood Leukemia ? ### Response: Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. Your blood cells form in your bone marrow. White blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic Ovary Syndrome ? ### Response: Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cytomegalovirus Infections ? ### Response: Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Assisted Reproductive Technology ### Response: Summary : Assisted reproductive technology (ART) is used to treat infertility. It includes fertility treatments that handle both a woman's egg and a man's sperm. It works by removing eggs from a woman's body. The eggs are then mixed with sperm to make embryos. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Allergy ? ### Response: An allergy is a reaction by your immune system to something that does not bother most other people. People who have allergies often are sensitive to more than one thing. Substances that often cause reactions are - Pollen - Dust mites - Mold spores - Pet dander - Food - Insect stings - Medicines Normally, your immune system fights germs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cellulitis ? ### Response: Cellulitis is an infection of the skin and deep underlying tissues. Group A strep (streptococcal) bacteria are the most common cause. The bacteria enter your body when you get an injury such as a bruise, burn, surgical cut, or wound. Symptoms include - Fever and chills - Swollen glands or lymph nodes - A rash with painful, red, tender skin. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Anabolic Steroids ### Response: Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases. Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Nutrition for Seniors ### Response: Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bedwetting ? ### Response: Many children wet the bed until they are 5 or even older. A child's bladder might be too small. Or the amount of urine produced overnight can be more than the bladder can hold. Some children sleep too deeply or take longer to learn bladder control. Stress can also be a factor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sweat ? ### Response: Sweat is a clear, salty liquid produced by glands in your skin. Sweating is how your body cools itself. You sweat mainly under your arms and on your feet and palms. When sweat mixes with bacteria on your skin, it can cause a smell. Bathing regularly and using antiperspirants or deodorants can help control the odor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Seizures ? ### Response: Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Personality Disorders ? ### Response: Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors that are unhealthy and inflexible. The behaviors cause serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and problems. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about E-Cigarettes ### Response: Summary : E-cigarettes, or electronic cigarettes, are battery-operated smoking devices. They often look like cigarettes, but work differently. Using an e-cigarette is called vaping. The user puffs on the mouthpiece of a cartridge. This causes a vaporizer to heat the liquid inside the cartridge. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Histoplasmosis ? ### Response: Histoplasmosis is a disease caused by a fungus (or mold) called Histoplasma. The fungus is common in the eastern and central United States. It grows in soil and material contaminated with bat or bird droppings. You get infected by breathing the fungal spores. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Teen Sexual Health ### Response: Summary : During your teens you go through puberty and become sexually mature. If you're a girl, you develop breasts and begin to get your period. If you're a boy, your penis and testicles become larger. If you have sex, you could get pregnant or get someone pregnant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphoma ? ### Response: Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vaginal Cancer ? ### Response: Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human papillomavirus (HPV) infection or if your mother took diethylstilbestrol (DES) when she was pregnant. Doctors prescribed DES in the 1950's to prevent miscarriages. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Bowel Movement ### Response: Summary : A bowel movement is the last stop in the movement of food through your digestive tract. Your stool passes out of your body through the rectum and anus. Another name for stool is feces. It is made of what is left after your digestive system (stomach, small intestine, and colon) absorbs nutrients and fluids from what you eat and drink. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Obesity in Children ? ### Response: Obesity means having too much body fat. It is different from being overweight, which means weighing too much. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Children grow at different rates, so it isn't always easy to know when a child is obese or overweight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salivary Gland Disorders ? ### Response: Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Botulism ? ### Response: Botulism is a rare but serious illness. The cause is a toxin (poison) made by a bacterium called Clostridium botulinum. It occurs naturally in soil. There are several kinds of botulism. Foodborne botulism comes from eating foods contaminated with the toxin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Floods ? ### Response: Floods are common in the United States. Weather such as heavy rain, thunderstorms, hurricanes, or tsunamis can cause flooding. Flooding can also happen when a river or stream overflows its bank, when a levee is breached, or when a dam breaks. Flash floods, which can develop quickly, often have a dangerous wall of roaring water. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fever ? ### Response: A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polymyalgia Rheumatica ? ### Response: Polymyalgia rheumatica is a disorder that causes muscle pain and stiffness in your neck, shoulders, and hips. It is most common in women and almost always occurs in people over 50. The main symptom is stiffness after resting. Other symptoms include fever, weakness and weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eye Movement Disorders ? ### Response: When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly. There are many kinds of eye movement disorders. Two common ones are - Strabismus - a disorder in which the two eyes don't line up in the same direction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Digestive Diseases ? ### Response: When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gallbladder Cancer ? ### Response: Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperthyroidism ? ### Response: Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Walking Problems ? ### Response: We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Uncommon Infant and Newborn Problems ### Response: Summary : It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the problem is serious or how to treat it. If you have concerns about your baby's health, call your health care provider right away. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Respiratory Failure ? ### Response: Respiratory failure happens when not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. Respiratory failure also can happen if your lungs can't remove carbon dioxide (a waste gas) from your blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hives ? ### Response: Hives are red and sometimes itchy bumps on your skin. An allergic reaction to a drug or food usually causes them. Allergic reactions cause your body to release chemicals that can make your skin swell up in hives. People who have other allergies are more likely to get hives than other people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Phenylketonuria ? ### Response: Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hair Problems ? ### Response: The average person has 5 million hairs. Hair grows all over your body except on your lips, palms, and the soles of your feet. It takes about a month for healthy hair to grow half an inch. Most hairs grow for up to six years and then fall out. New hairs grow in their place. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barotrauma ? ### Response: Barotrauma means injury to your body because of changes in barometric (air) or water pressure. One common type happens to your ear. A change in altitude may cause your ears to hurt. This can happen if you are flying in an airplane, driving in the mountains, or scuba diving. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Nursing Homes ### Response: Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupational therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) West Nile Virus ? ### Response: West Nile virus (WNV) is an infectious disease that first appeared in the United States in 1999. Infected mosquitoes spread the virus that causes it. People who get WNV usually have no symptoms or mild symptoms. The symptoms include a fever, headache, body aches, skin rash, and swollen lymph glands. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rubella ? ### Response: Rubella is an infection caused by a virus. It is usually mild with fever and a rash. About half of the people who get rubella do not have symptoms. If you do get them, symptoms may include - A rash that starts on the face and spreads to the body - Mild fever - Aching joints, especially in young women - Swollen glands Rubella is most dangerous for a pregnant woman's baby. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic Nerve Problems ? ### Response: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage the covering on your nerves or the blood vessels that bring oxygen to your nerves. Damaged nerves may stop sending messages, or may send messages slowly or at the wrong times. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acne ? ### Response: Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Drug Safety ### Response: Summary : In the U.S., the government's Food and Drug Administration (FDA) must approve any drug before it can be sold. This is true whether it's a prescription or an over-the-counter drug. The FDA evaluates the safety of a drug by looking at - Side effects - How it's manufactured - Results of animal testing and clinical trials The FDA also monitors a drug's safety after approval. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bile Duct Cancer ? ### Response: Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tailbone Disorders ? ### Response: The tailbone is the small bone at the bottom of your backbone, or spine. Tailbone disorders include tailbone injuries, pain, infections, cysts and tumors. You rarely break your tailbone. Instead, most injuries cause bruises or pulled ligaments. A backward fall onto a hard surface, such as slipping on ice, is the most common cause of such injuries. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about B Vitamins ### Response: Summary : The B vitamins are - B1 (thiamine) - B2 (riboflavin) - B3 (niacin) - B5 (pantothenic acid) - B6 - B7 (biotin) - B12 - Folic acid These vitamins help the process your body uses to get or make energy from the food you eat. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Teen Development ### Response: Summary : As a teenager, you go through many physical, mental, emotional, and social changes. The biggest change is puberty, the process of becoming sexually mature. It usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. As your body changes, you may have questions about sexual health. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Medicare ### Response: Summary : Medicare is the U.S. government's health insurance program for people age 65 or older. Some people under age 65 can qualify for Medicare, too. They include those with disabilities, permanent kidney failure, or amyotrophic lateral sclerosis. Medicare helps with the cost of health care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Back Pain ? ### Response: If you've ever groaned, ""Oh, my aching back!"", you are not alone. Back pain is one of the most common medical problems, affecting 8 out of 10 people at some point during their lives. Back pain can range from a dull, constant ache to a sudden, sharp pain. Acute back pain comes on suddenly and usually lasts from a few days to a few weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creatinine ? ### Response: Creatinine is a waste product in your blood. It comes from protein in your diet and the normal breakdown of muscles of your body. Creatinine is removed from blood by the kidneys and then passes out of the body in your urine. If you have kidney disease, the level of creatinine in your blood increases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Croup ? ### Response: Croup is an inflammation of the vocal cords (larynx) and windpipe (trachea). It causes difficulty breathing, a barking cough, and a hoarse voice. The cause is usually a virus, often parainfluenza virus. Other causes include allergies and reflux. Croup often starts out like a cold. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Malabsorption Syndromes ? ### Response: Your small intestine does most of the digesting of the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include - Celiac disease - Lactose intolerance - Short bowel syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brain Aneurysm ? ### Response: A brain aneurysm is an abnormal bulge or ""ballooning"" in the wall of an artery in the brain. They are sometimes called berry aneurysms because they are often the size of a small berry. Most brain aneurysms produce no symptoms until they become large, begin to leak blood, or burst. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rett Syndrome ? ### Response: Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Indigestion ? ### Response: Nearly everyone has had indigestion at one time. It's a feeling of discomfort or a burning feeling in your upper abdomen. You may have heartburn or belch and feel bloated. You may also feel nauseated, or even throw up. You might get indigestion from eating too much or too fast, eating high-fat foods, or eating when you're stressed. " "Below is an instruction from Human. Write a response. ### Instruction: Do you have information about Acupuncture ### Response: Summary : Acupuncture has been practiced in China and other Asian countries for thousands of years. Acupuncture involves stimulating specific points on the body. This is most often done by inserting thin needles through the skin, to cause a change in the physical functions of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metabolic Disorders ? ### Response: Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cyclic neutropenia ? ### Response: Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cyclic neutropenia ? ### Response: Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cyclic neutropenia ? ### Response: Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. " "Below is an instruction from Human. Write a response. ### Instruction: Is cyclic neutropenia inherited ? ### Response: Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cyclic neutropenia ? ### Response: These resources address the diagnosis or management of cyclic neutropenia: - Gene Review: Gene Review: ELANE-Related Neutropenia - Genetic Testing Registry: Cyclical neutropenia - Seattle Children's Hospital These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Behet disease ? ### Response: Behet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Behet disease ? ### Response: Behet disease is most common in Mediterranean countries, the Middle East, Japan, and other parts of Asia. However, it has been found in populations worldwide. The highest prevalence of Behet disease has been reported in Turkey, where the disorder affects up to 420 in 100,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Behet disease ? ### Response: The cause of Behet disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behet disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is Behet disease inherited ? ### Response: Most cases of Behet disease are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Behet disease ? ### Response: These resources address the diagnosis or management of Behet disease: - American Behcet's Disease Association: Diagnosis - American Behcet's Disease Association: Treatments - Genetic Testing Registry: Behcet's syndrome These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nijmegen breakage syndrome ? ### Response: Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nijmegen breakage syndrome ? ### Response: Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Nijmegen breakage syndrome ? ### Response: Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins as part of a larger protein complex. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nijmegen breakage syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nijmegen breakage syndrome ? ### Response: These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmege " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital stromal corneal dystrophy ? ### Response: Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital stromal corneal dystrophy ? ### Response: Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital stromal corneal dystrophy ? ### Response: Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital stromal corneal dystrophy ? ### Response: Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital stromal corneal dystrophy ? ### Response: These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - MedlinePlus Encyclopedia: Clo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beare-Stevenson cutis gyrata syndrome ? ### Response: Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beare-Stevenson cutis gyrata syndrome ? ### Response: Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Beare-Stevenson cutis gyrata syndrome ? ### Response: Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. " "Below is an instruction from Human. Write a response. ### Instruction: Is Beare-Stevenson cutis gyrata syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Beare-Stevenson cutis gyrata syndrome ? ### Response: These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson - MedlinePlus Encyc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) porphyria ? ### Response: Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by porphyria ? ### Response: The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to porphyria ? ### Response: Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS. The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these genes reduce enzyme activity, which limits the amount of heme the body can produce. " "Below is an instruction from Human. Write a response. ### Instruction: Is porphyria inherited ? ### Response: Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for porphyria ? ### Response: These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosoma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isodicentric chromosome 15 syndrome ? ### Response: Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isodicentric chromosome 15 syndrome ? ### Response: Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isodicentric chromosome 15 syndrome ? ### Response: Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is isodicentric chromosome 15 syndrome inherited ? ### Response: Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most affected individuals have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isodicentric chromosome 15 syndrome ? ### Response: These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) polymicrogyria ? ### Response: Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) polymicrogyria ? ### Response: Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to polymicrogyria ? ### Response: In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include certain infections during pregnancy and a lack of oxygen to the fetus (intrauterine ischemia). " "Below is an instruction from Human. Write a response. ### Instruction: Is polymicrogyria inherited ? ### Response: Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for polymicrogyria ? ### Response: These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Gen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pompe disease ? ### Response: Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pompe disease ? ### Response: Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pompe disease ? ### Response: Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pompe disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pompe disease ? ### Response: These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Test " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary xanthinuria ? ### Response: Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hereditary xanthinuria ? ### Response: The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are never diagnosed with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary xanthinuria ? ### Response: Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary xanthinuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary xanthinuria ? ### Response: These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperkalemic periodic paralysis ? ### Response: Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperkalemic periodic paralysis ? ### Response: Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperkalemic periodic paralysis ? ### Response: Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperkalemic periodic paralysis ? ### Response: Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hyperkalemic periodic paralysis ? ### Response: These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Registry: Hyperkale " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arginase deficiency ? ### Response: Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arginase deficiency ? ### Response: Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to arginase deficiency ? ### Response: Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is arginase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for arginase deficiency ? ### Response: These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuroblastoma ? ### Response: Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuroblastoma ? ### Response: Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neuroblastoma ? ### Response: Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genesthose that control cell growth and division (proliferation) or maturation (differentiation)allow cells to grow and divide uncontrollably to form a tumor. In most cases, these genetic changes are acquired during a person's lifetime and are called somatic mutations. " "Below is an instruction from Human. Write a response. ### Instruction: Is neuroblastoma inherited ? ### Response: Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell increases the risk of developing the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neuroblastoma ? ### Response: These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Tes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Birt-Hogg-Dub syndrome ? ### Response: Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Birt-Hogg-Dub syndrome ? ### Response: Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Birt-Hogg-Dub syndrome ? ### Response: Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is Birt-Hogg-Dub syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Birt-Hogg-Dub syndrome ? ### Response: These resources address the diagnosis or management of Birt-Hogg-Dub syndrome: - BHD Foundation: Practical Considerations - Gene Review: Gene Review: Birt-Hogg-Dube Syndrome - Genetic Testing Registry: Multiple fibrofolliculomas - MedlinePlus Encycloped " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) N-acetylglutamate synthase deficiency ? ### Response: N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) N-acetylglutamate synthase deficiency ? ### Response: N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to N-acetylglutamate synthase deficiency ? ### Response: Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. N-acetylglutamate synthase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is N-acetylglutamate synthase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for N-acetylglutamate synthase deficiency ? ### Response: These resources address the diagnosis or management of N-acetylglutamate synthase deficiency: - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperammonemia, type III - MedlinePlus Encyclopedia: Hereditary Urea Cycle " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Winchester syndrome ? ### Response: Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Winchester syndrome ? ### Response: Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Winchester syndrome ? ### Response: Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Winchester syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Winchester syndrome ? ### Response: These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolman disease ? ### Response: Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolman disease ? ### Response: Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wolman disease ? ### Response: Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wolman disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolman disease ? ### Response: These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) purine nucleoside phosphorylase deficiency ? ### Response: Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) purine nucleoside phosphorylase deficiency ? ### Response: Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to purine nucleoside phosphorylase deficiency ? ### Response: Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. " "Below is an instruction from Human. Write a response. ### Instruction: Is purine nucleoside phosphorylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for purine nucleoside phosphorylase deficiency ? ### Response: These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: - Baby's First Test: Severe Combined Immunodeficiency - Genetic Testing Registry: Purine-nucleoside phosphorylase deficiency - National Marrow Donor Progra " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing disease ? ### Response: Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing disease ? ### Response: Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cushing disease ? ### Response: The genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifetime and are present only in certain cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cushing disease inherited ? ### Response: Most cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that have Cushing disease as a feature can have different inheritance patterns. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cushing disease ? ### Response: These resources address the diagnosis or management of Cushing disease: - Genetic Testing Registry: Pituitary dependent hypercortisolism - MedlinePlus Encyclopedia: Cortisol Level - MedlinePlus Encyclopedia: Cushing Disease - The Endocrine Society's Cli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudoxanthoma elasticum ? ### Response: Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudoxanthoma elasticum ? ### Response: Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pseudoxanthoma elasticum ? ### Response: Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. " "Below is an instruction from Human. Write a response. ### Instruction: Is pseudoxanthoma elasticum inherited ? ### Response: PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pseudoxanthoma elasticum ? ### Response: These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum These resources from MedlinePlus offer information about the diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) beta-mannosidosis ? ### Response: Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by beta-mannosidosis ? ### Response: Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to beta-mannosidosis ? ### Response: Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). " "Below is an instruction from Human. Write a response. ### Instruction: Is beta-mannosidosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for beta-mannosidosis ? ### Response: These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondylocostal dysostosis ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondylocostal dysostosis ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. " "Below is an instruction from Human. Write a response. ### Instruction: Is spondylocostal dysostosis inherited ? ### Response: Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spondylocostal dysostosis ? ### Response: These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylocostal dyso " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) biotinidase deficiency ? ### Response: Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) biotinidase deficiency ? ### Response: Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to biotinidase deficiency ? ### Response: Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. " "Below is an instruction from Human. Write a response. ### Instruction: Is biotinidase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for biotinidase deficiency ? ### Response: These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Bio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) erythrokeratodermia variabilis et progressiva ? ### Response: Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) erythrokeratodermia variabilis et progressiva ? ### Response: Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to erythrokeratodermia variabilis et progressiva ? ### Response: EKVP can be caused by mutations in the GJB3 or GJB4 gene. These genes provide instructions for making proteins called connexin 31 and connexin 30.3, respectively. These proteins are part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is erythrokeratodermia variabilis et progressiva inherited ? ### Response: EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for erythrokeratodermia variabilis et progressiva ? ### Response: These resources address the diagnosis or management of EKVP: - Genetic Testing Registry: Erythrokeratodermia variabilis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudohypoaldosteronism type 1 ? ### Response: Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudohypoaldosteronism type 1 ? ### Response: Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pseudohypoaldosteronism type 1 ? ### Response: Mutations in one of four different genes involved in sodium regulation cause autosomal dominant or autosomal recessive PHA1. Mutations in the NR3C2 gene cause autosomal dominant PHA1. This gene provides instructions for making the mineralocorticoid receptor protein. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pseudohypoaldosteronism type 1 ? ### Response: These resources address the diagnosis or management of pseudohypoaldosteronism type 1: - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal dominant - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal recessive - MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trichothiodystrophy ? ### Response: Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trichothiodystrophy ? ### Response: Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to trichothiodystrophy ? ### Response: Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex. " "Below is an instruction from Human. Write a response. ### Instruction: Is trichothiodystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for trichothiodystrophy ? ### Response: These resources address the diagnosis or management of trichothiodystrophy: - Genetic Testing Registry: BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome - Genetic Testing Registry: Photosensitive trichothiodystrophy - Genet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hemophilia ? ### Response: Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hemophilia ? ### Response: The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hemophilia ? ### Response: Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is hemophilia inherited ? ### Response: Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hemophilia ? ### Response: These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gnathodiaphyseal dysplasia ? ### Response: Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gnathodiaphyseal dysplasia ? ### Response: Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to gnathodiaphyseal dysplasia ? ### Response: Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. " "Below is an instruction from Human. Write a response. ### Instruction: Is gnathodiaphyseal dysplasia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for gnathodiaphyseal dysplasia ? ### Response: These resources address the diagnosis or management of gnathodiaphyseal dysplasia: - Cleveland Clinic: Osteomyelitis - MedlinePlus Encyclopedia: Bone Mineral Density Testing These resources from MedlinePlus offer information about the diagnosis and mana " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary spontaneous pneumothorax ? ### Response: Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary spontaneous pneumothorax ? ### Response: Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary spontaneous pneumothorax ? ### Response: Mutations in the FLCN gene can cause primary spontaneous pneumothorax, although these mutations appear to be a very rare cause of this condition. The FLCN gene provides instructions for making a protein called folliculin. In the lungs, folliculin is found in the connective tissue cells that allow the lungs to contract and expand when breathing. " "Below is an instruction from Human. Write a response. ### Instruction: Is primary spontaneous pneumothorax inherited ? ### Response: When this condition is caused by mutations in the FLCN gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, a person inherits the FLCN gene mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary spontaneous pneumothorax ? ### Response: These resources address the diagnosis or management of primary spontaneous pneumothorax: - Genetic Testing Registry: Pneumothorax, primary spontaneous - MedlinePlus Encyclopedia: Chest Tube Insertion - MedlinePlus Encyclopedia: Collapsed Lung - Merck Ma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary paraganglioma-pheochromocytoma ? ### Response: Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary paraganglioma-pheochromocytoma ? ### Response: Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary paraganglioma-pheochromocytoma inherited ? ### Response: Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary paraganglioma-pheochromocytoma ? ### Response: These resources address the diagnosis or management of hereditary paraganglioma-pheochromocytoma: - Gene Review: Gene Review: Hereditary Paraganglioma-Pheochromocytoma Syndromes - Genetic Testing Registry: Paragangliomas 1 - Genetic Testing Registry: Par " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arterial tortuosity syndrome ? ### Response: Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arterial tortuosity syndrome ? ### Response: Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to arterial tortuosity syndrome ? ### Response: Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene. This gene provides instructions for making a protein called GLUT10. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-) signaling pathway. " "Below is an instruction from Human. Write a response. ### Instruction: Is arterial tortuosity syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for arterial tortuosity syndrome ? ### Response: These resources address the diagnosis or management of arterial tortuosity syndrome: - Gene Review: Gene Review: Arterial Tortuosity Syndrome - Genetic Testing Registry: Arterial tortuosity syndrome - Johns Hopkins McKusick-Nathans Institute of Genetic M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) deafness and myopia syndrome ? ### Response: Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to deafness and myopia syndrome ? ### Response: Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is deafness and myopia syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for deafness and myopia syndrome ? ### Response: These resources address the diagnosis or management of deafness and myopia syndrome: - Baby's First Test: Hearing Loss - EyeSmart: Eyeglasses for Vision Correction - Gene Review: Gene Review: Deafness and Myopia Syndrome - Harvard Medical School Center " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary sclerosing cholangitis ? ### Response: Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary sclerosing cholangitis ? ### Response: Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary sclerosing cholangitis ? ### Response: Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis have an increased risk of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is primary sclerosing cholangitis inherited ? ### Response: The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary sclerosing cholangitis ? ### Response: These resources address the diagnosis or management of primary sclerosing cholangitis: - American Liver Foundation: Primary Sclerosing Cholangitis (PSC) - Genetic Testing Registry: Primary sclerosing cholangitis - MedlinePlus Encyclopedia: Sclerosing Cho " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) succinyl-CoA:3-ketoacid CoA transferase deficiency ? ### Response: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) succinyl-CoA:3-ketoacid CoA transferase deficiency ? ### Response: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. " "Below is an instruction from Human. Write a response. ### Instruction: Is succinyl-CoA:3-ketoacid CoA transferase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for succinyl-CoA:3-ketoacid CoA transferase deficiency ? ### Response: These resources address the diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency: - Genetic Testing Registry: Succinyl-CoA acetoacetate transferase deficiency - MedlinePlus Encyclopedia: Ketones--Urine - MedlinePlus Encyclopedia: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dermatofibrosarcoma protuberans ? ### Response: Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin, usually 1 to 5 centimeters in diameter, that is usually purplish, reddish, or flesh-colored. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dermatofibrosarcoma protuberans ? ### Response: Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the PDGFB gene from chromosome 22. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dermatofibrosarcoma protuberans ? ### Response: Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the PDGFB gene from chromosome 22. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dermatofibrosarcoma protuberans ? ### Response: These resources address the diagnosis or management of dermatofibrosarcoma protuberans: - American Cancer Society: How are Soft Tissue Sarcomas Diagnosed? - American Cancer Society: Treatment of Soft Tissue Sarcomas - Genetic Testing Registry: Dermatofib " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jervell and Lange-Nielsen syndrome ? ### Response: Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jervell and Lange-Nielsen syndrome ? ### Response: Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Jervell and Lange-Nielsen syndrome ? ### Response: Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Jervell and Lange-Nielsen syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Jervell and Lange-Nielsen syndrome ? ### Response: These resources address the diagnosis or management of Jervell and Lange-Nielsen syndrome: - Gene Review: Gene Review: Jervell and Lange-Nielsen Syndrome - Genetic Testing Registry: Jervell and Lange-Nielsen syndrome - MedlinePlus Encyclopedia: Arrhythmi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated Pierre Robin sequence ? ### Response: Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a ""sequence"" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isolated Pierre Robin sequence ? ### Response: Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence. The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: Is isolated Pierre Robin sequence inherited ? ### Response: Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isolated Pierre Robin sequence ? ### Response: These resources address the diagnosis or management of isolated Pierre Robin sequence: - Boston Children's Hospital: Cleft Lip and Cleft Palate Treatment and Care - Genetic Testing Registry: Robin sequence - Seattle Children's Hospital: Robin Sequence Tr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prolidase deficiency ? ### Response: Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by prolidase deficiency ? ### Response: Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among members of a religious minority called the Druze and in nearby Arab Moslem populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to prolidase deficiency ? ### Response: Prolidase deficiency is caused by mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). " "Below is an instruction from Human. Write a response. ### Instruction: Is prolidase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for prolidase deficiency ? ### Response: These resources address the diagnosis or management of prolidase deficiency: - Gene Review: Gene Review: Prolidase Deficiency - Genetic Testing Registry: Prolidase deficiency These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Melnick-Needles syndrome ? ### Response: Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Melnick-Needles syndrome ? ### Response: Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Melnick-Needles syndrome ? ### Response: Mutations in the FLNA gene cause Melnick-Needles syndrome. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is Melnick-Needles syndrome inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Melnick-Needles syndrome ? ### Response: These resources address the diagnosis or management of Melnick-Needles syndrome: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Melnick-Needles syndrome These resources from MedlinePlus offer information abou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) restless legs syndrome ? ### Response: Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by restless legs syndrome ? ### Response: Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to restless legs syndrome ? ### Response: Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including the production of a chemical messenger (neurotransmitter) called dopamine. " "Below is an instruction from Human. Write a response. ### Instruction: Is restless legs syndrome inherited ? ### Response: The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for restless legs syndrome ? ### Response: These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National H " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? ### Response: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? ### Response: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? ### Response: Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. " "Below is an instruction from Human. Write a response. ### Instruction: Is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? ### Response: These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolff-Parkinson-White syndrome ? ### Response: Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wolff-Parkinson-White syndrome ? ### Response: Mutations in the PRKAG2 gene cause Wolff-Parkinson-White syndrome. A small percentage of all cases of Wolff-Parkinson-White syndrome are caused by mutations in the PRKAG2 gene. Some people with these mutations also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and weakens the heart (cardiac) muscle. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wolff-Parkinson-White syndrome inherited ? ### Response: Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition. These cases are described as sporadic and are not inherited. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolff-Parkinson-White syndrome ? ### Response: These resources address the diagnosis or management of Wolff-Parkinson-White syndrome: - Genetic Testing Registry: Wolff-Parkinson-White pattern - MedlinePlus Encyclopedia: Wolff-Parkinson-White syndrome These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha thalassemia ? ### Response: Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by alpha thalassemia ? ### Response: Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, North Africa, the Middle East, India, and Central Asia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alpha thalassemia ? ### Response: Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is alpha thalassemia inherited ? ### Response: The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alpha thalassemia ? ### Response: These resources address the diagnosis or management of alpha thalassemia: - Gene Review: Gene Review: Alpha-Thalassemia - Genetic Testing Registry: alpha Thalassemia - MedlinePlus Encyclopedia: Thalassemia - University of California, San Francisco Fetal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) KBG syndrome ? ### Response: KBG syndrome is a rare disorder that affects several body systems. ""KBG"" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by KBG syndrome ? ### Response: KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders. " "Below is an instruction from Human. Write a response. ### Instruction: Is KBG syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for KBG syndrome ? ### Response: These resources address the diagnosis or management of KBG syndrome: - Genetic Testing Registry: KBG syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Greenberg dysplasia ? ### Response: Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Greenberg dysplasia ? ### Response: Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Greenberg dysplasia ? ### Response: Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol. " "Below is an instruction from Human. Write a response. ### Instruction: Is Greenberg dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Greenberg dysplasia ? ### Response: These resources address the diagnosis or management of Greenberg dysplasia: - Genetic Testing Registry: Greenberg dysplasia - Lurie Children's Hospital of Chicago: Fetal Skeletal Dysplasia These resources from MedlinePlus offer information about the dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial porencephaly ? ### Response: Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial porencephaly ? ### Response: Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial porencephaly ? ### Response: Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial porencephaly ? ### Response: Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial porencephaly ? ### Response: These resources address the diagnosis or management of familial porencephaly: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Familial porencephaly These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) psoriatic arthritis ? ### Response: Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated skin that are often covered by flaky white scales. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by psoriatic arthritis ? ### Response: Psoriatic arthritis affects an estimated 24 in 10,000 people. Between 5 and 10 percent of people with psoriasis develop psoriatic arthritis, according to most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis itself is a common disorder, affecting approximately 2 to 3 percent of the population worldwide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to psoriatic arthritis ? ### Response: The specific cause of psoriatic arthritis is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to psoriatic arthritis ? ### Response: The specific cause of psoriatic arthritis is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for psoriatic arthritis ? ### Response: These resources address the diagnosis or management of psoriatic arthritis: - American Society for Surgery of the Hand - Genetic Testing Registry: Psoriatic arthritis, susceptibility to - The Johns Hopkins Arthritis Center These resources from MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carbamoyl phosphate synthetase I deficiency ? ### Response: Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carbamoyl phosphate synthetase I deficiency ? ### Response: Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to carbamoyl phosphate synthetase I deficiency ? ### Response: Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea cycle, which is a sequence of biochemical reactions that occurs in liver cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is carbamoyl phosphate synthetase I deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for carbamoyl phosphate synthetase I deficiency ? ### Response: These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) rheumatoid arthritis ? ### Response: Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, primarily affecting the joints. The most common signs and symptoms are pain, swelling, and stiffness of the joints. Small joints in the hands and feet are involved most often, although larger joints (such as the shoulders, hips, and knees) may become involved later in the disease. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by rheumatoid arthritis ? ### Response: Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormonal factors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to rheumatoid arthritis ? ### Response: Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to rheumatoid arthritis ? ### Response: Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for rheumatoid arthritis ? ### Response: These resources address the diagnosis or management of rheumatoid arthritis: - American College of Rheumatology: ACR-Endorsed Criteria for Rheumatic Diseases - American College of Rheumatology: Treatment for Rheumatic Diseases - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) generalized arterial calcification of infancy ? ### Response: Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) generalized arterial calcification of infancy ? ### Response: Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to generalized arterial calcification of infancy ? ### Response: In about two-thirds of cases, GACI is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps break down a molecule called adenosine triphosphate (ATP), specifically when it is found outside the cell (extracellular). " "Below is an instruction from Human. Write a response. ### Instruction: Is generalized arterial calcification of infancy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for generalized arterial calcification of infancy ? ### Response: These resources address the diagnosis or management of GACI: - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy - Genetic Testing Registry: Generalized arterial calcification of infancy 2 These resources from MedlinePlus offer inf " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PPM-X syndrome ? ### Response: PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PPM-X syndrome ? ### Response: PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to PPM-X syndrome ? ### Response: Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. " "Below is an instruction from Human. Write a response. ### Instruction: Is PPM-X syndrome inherited ? ### Response: More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that PPM-X syndrome has an X-linked pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for PPM-X syndrome ? ### Response: These resources address the diagnosis or management of PPM-X syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 36 ? ### Response: Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 36 ? ### Response: Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinocerebellar ataxia type 36 ? ### Response: SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the cerebellum. This protein is one part (subunit) of the ribonucleoprotein complex, which is composed of proteins and molecules of RNA, DNA's chemical cousin. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinocerebellar ataxia type 36 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. In conditions that are caused by repeated segments of DNA, the number of repeats often increases when the altered gene is passed down from one generation to the next. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinocerebellar ataxia type 36 ? ### Response: These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Niemann-Pick disease ? ### Response: Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Niemann-Pick disease ? ### Response: Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Niemann-Pick disease ? ### Response: Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. " "Below is an instruction from Human. Write a response. ### Instruction: Is Niemann-Pick disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Niemann-Pick disease ? ### Response: These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niemann-Pic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) RAPADILINO syndrome ? ### Response: RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) RAPADILINO syndrome ? ### Response: RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to RAPADILINO syndrome ? ### Response: Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. " "Below is an instruction from Human. Write a response. ### Instruction: Is RAPADILINO syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for RAPADILINO syndrome ? ### Response: These resources address the diagnosis or management of RAPADILINO syndrome: - Genetic Testing Registry: Rapadilino syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) steatocystoma multiplex ? ### Response: Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) steatocystoma multiplex ? ### Response: Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to steatocystoma multiplex ? ### Response: Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. " "Below is an instruction from Human. Write a response. ### Instruction: Is steatocystoma multiplex inherited ? ### Response: When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for steatocystoma multiplex ? ### Response: These resources address the diagnosis or management of steatocystoma multiplex: - Genetic Testing Registry: Steatocystoma multiplex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha-mannosidosis ? ### Response: Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha-mannosidosis ? ### Response: Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alpha-mannosidosis ? ### Response: Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). " "Below is an instruction from Human. Write a response. ### Instruction: Is alpha-mannosidosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alpha-mannosidosis ? ### Response: These resources address the diagnosis or management of alpha-mannosidosis: - Gene Review: Gene Review: Alpha-Mannosidosis - Genetic Testing Registry: Deficiency of alpha-mannosidase These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Freeman-Sheldon syndrome ? ### Response: Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a ""whistling face."" For this reason, the condition is sometimes called ""whistling face syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Freeman-Sheldon syndrome ? ### Response: Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a ""whistling face."" For this reason, the condition is sometimes called ""whistling face syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Freeman-Sheldon syndrome ? ### Response: Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Freeman-Sheldon syndrome inherited ? ### Response: Freeman-Sheldon syndrome can have different inheritance patterns. In some cases, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition can also have an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Freeman-Sheldon syndrome ? ### Response: These resources address the diagnosis or management of Freeman-Sheldon syndrome: - Genetic Testing Registry: Freeman-Sheldon syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) severe congenital neutropenia ? ### Response: Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) severe congenital neutropenia ? ### Response: Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to severe congenital neutropenia ? ### Response: Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immune molecules and ingest and break down foreign invaders. " "Below is an instruction from Human. Write a response. ### Instruction: Is severe congenital neutropenia inherited ? ### Response: Most cases of severe congenital neutropenia are classified as sporadic and occur in people with no apparent history of the disorder in their family. Some of these cases are associated with changes in specific genes; however in some cases the cause of the disorder is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for severe congenital neutropenia ? ### Response: These resources address the diagnosis or management of severe congenital neutropenia: - Cincinnati Children's Hospital: The Severe Congenital Neutropenia International Registry - Gene Review: Gene Review: ELANE-Related Neutropenia - Gene Review: Gene Rev " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vohwinkel syndrome ? ### Response: Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vohwinkel syndrome ? ### Response: Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Vohwinkel syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Vohwinkel syndrome ? ### Response: These resources address the diagnosis or management of Vohwinkel syndrome: - Genetic Testing Registry: Mutilating keratoderma - Genetic Testing Registry: Vohwinkel syndrome, variant form These resources from MedlinePlus offer information about the diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thanatophoric dysplasia ? ### Response: Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thanatophoric dysplasia ? ### Response: Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to thanatophoric dysplasia ? ### Response: Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is thanatophoric dysplasia inherited ? ### Response: Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for thanatophoric dysplasia ? ### Response: These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, type 2 T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GRACILE syndrome ? ### Response: GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GRACILE syndrome ? ### Response: GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GRACILE syndrome ? ### Response: GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is GRACILE syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GRACILE syndrome ? ### Response: These resources address the diagnosis or management of GRACILE syndrome: - Genetic Testing Registry: GRACILE syndrome - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Cholestasis These resources from MedlinePlus offer information a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) coloboma ? ### Response: Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to coloboma ? ### Response: Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. " "Below is an instruction from Human. Write a response. ### Instruction: Is coloboma inherited ? ### Response: Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children. In cases when it is passed down in families, coloboma can have different inheritance patterns. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for coloboma ? ### Response: These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with colob " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brody myopathy ? ### Response: Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brody myopathy ? ### Response: Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Brody myopathy ? ### Response: Mutations in the ATP2A1 gene cause Brody myopathy. The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum. " "Below is an instruction from Human. Write a response. ### Instruction: Is Brody myopathy inherited ? ### Response: Brody myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Brody myopathy ? ### Response: These resources address the diagnosis or management of Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated lissencephaly sequence ? ### Response: Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated lissencephaly sequence ? ### Response: Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). " "Below is an instruction from Human. Write a response. ### Instruction: Is isolated lissencephaly sequence inherited ? ### Response: The inheritance pattern of ILS depends on the gene involved. When ILS is caused by mutations in the PAFAH1B1 or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isolated lissencephaly sequence ? ### Response: These resources address the diagnosis or management of isolated lissencephaly sequence: - Gene Review: Gene Review: DCX-Related Disorders - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Gene Review: Gene Review: T " "Below is an instruction from Human. Write a response. ### Instruction: Is homocystinuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for homocystinuria ? ### Response: These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Defici " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by X-linked congenital stationary night blindness ? ### Response: The prevalence of this condition is unknown. It appears to be more common in people of Dutch-German Mennonite descent. However, this disorder has been reported in families with many different ethnic backgrounds. The incomplete form is more common than the complete form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked congenital stationary night blindness ? ### Response: Mutations in the NYX and CACNA1F genes cause the complete and incomplete forms of X-linked congenital stationary night blindness, respectively. The proteins produced from these genes play critical roles in the retina. Within the retina, the NYX and CACNA1F proteins are located on the surface of light-detecting cells called photoreceptors. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked congenital stationary night blindness inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The NYX and CACNA1F genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked congenital stationary night blindness ? ### Response: These resources address the diagnosis or management of X-linked congenital stationary night blindness: - American Optometric Association: Infant Vision - Gene Review: Gene Review: X-Linked Congenital Stationary Night Blindness - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cytogenetically normal acute myeloid leukemia ? ### Response: Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cytogenetically normal acute myeloid leukemia ? ### Response: CN-AML is classified as ""cytogenetically normal"" based on the type of genetic changes involved in its development. Cytogenetically normal refers to the fact that this form of acute myeloid leukemia is not associated with large chromosomal abnormalities. About half of people with acute myeloid leukemia have this form of the condition; the other half have genetic changes that alter large regions of certain chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is cytogenetically normal acute myeloid leukemia inherited ? ### Response: CN-AML is not usually inherited but arises from genetic changes in the body's cells that occur after conception. Rarely, an inherited mutation in the CEBPA gene causes acute myeloid leukemia. In these cases, the condition follows an autosomal dominant pattern of inheritance, which means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cytogenetically normal acute myeloid leukemia ? ### Response: These resources address the diagnosis or management of cytogenetically normal acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These r " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adermatoglyphia ? ### Response: Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adermatoglyphia ? ### Response: Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adermatoglyphia ? ### Response: Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adermatoglyphia ? ### Response: Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adermatoglyphia ? ### Response: These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked lissencephaly with abnormal genitalia ? ### Response: X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked lissencephaly with abnormal genitalia ? ### Response: X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked lissencephaly with abnormal genitalia ? ### Response: Mutations in the ARX gene cause XLAG. The ARX gene provides instructions for producing a protein that is involved in the development of several organs, including the brain, testes, and pancreas. In the developing brain, the ARX protein is involved with movement and communication in nerve cells (neurons). " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked lissencephaly with abnormal genitalia inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked lissencephaly with abnormal genitalia ? ### Response: These resources address the diagnosis or management of X-linked lissencephaly with abnormal genitalia: - Genetic Testing Registry: Lissencephaly 2, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prothrombin thrombophilia ? ### Response: Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the deep veins of the legs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by prothrombin thrombophilia ? ### Response: Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people in the white population in the United States and Europe has prothrombin thrombophilia. This condition is less common in other ethnic groups, occurring in less than one percent of African American, Native American, or Asian populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to prothrombin thrombophilia ? ### Response: Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a series of chemical reactions in order to form a blood clot. " "Below is an instruction from Human. Write a response. ### Instruction: Is prothrombin thrombophilia inherited ? ### Response: The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for prothrombin thrombophilia ? ### Response: These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus En " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) catecholaminergic polymorphic ventricular tachycardia ? ### Response: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) catecholaminergic polymorphic ventricular tachycardia ? ### Response: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ? ### Response: CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: Is catecholaminergic polymorphic ventricular tachycardia inherited ? ### Response: When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for catecholaminergic polymorphic ventricular tachycardia ? ### Response: These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schinzel-Giedion syndrome ? ### Response: Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schinzel-Giedion syndrome ? ### Response: Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Schinzel-Giedion syndrome ? ### Response: Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Schinzel-Giedion syndrome ? ### Response: Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schinzel-Giedion syndrome ? ### Response: These resources address the diagnosis or management of Schinzel-Giedion syndrome: - Genetic Testing Registry: Schinzel-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ? ### Response: PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to PRICKLE1-related progressive myoclonus epilepsy with ataxia ? ### Response: PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle homolog 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function. " "Below is an instruction from Human. Write a response. ### Instruction: Is PRICKLE1-related progressive myoclonus epilepsy with ataxia inherited ? ### Response: Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ? ### Response: These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus e " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant vitreoretinochoroidopathy ? ### Response: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant vitreoretinochoroidopathy ? ### Response: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ? ### Response: ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ? ### Response: ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal dominant vitreoretinochoroidopathy ? ### Response: These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Vitreoretinochoroidopathy dominant These resources from Medline " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyruvate carboxylase deficiency ? ### Response: Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyruvate carboxylase deficiency ? ### Response: Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pyruvate carboxylase deficiency ? ### Response: Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. " "Below is an instruction from Human. Write a response. ### Instruction: Is pyruvate carboxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pyruvate carboxylase deficiency ? ### Response: These resources address the diagnosis or management of pyruvate carboxylase deficiency: - Gene Review: Gene Review: Pyruvate Carboxylase Deficiency - Genetic Testing Registry: Pyruvate carboxylase deficiency These resources from MedlinePlus offer inform " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondyloepiphyseal dysplasia congenita ? ### Response: Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondyloepiphyseal dysplasia congenita ? ### Response: Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloepiphyseal dysplasia congenita ? ### Response: Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloepiphyseal dysplasia congenita ? ### Response: Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spondyloepiphyseal dysplasia congenita ? ### Response: These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Enc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) palmoplantar keratoderma with deafness ? ### Response: Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) palmoplantar keratoderma with deafness ? ### Response: Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to palmoplantar keratoderma with deafness ? ### Response: Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes. The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. " "Below is an instruction from Human. Write a response. ### Instruction: Is palmoplantar keratoderma with deafness inherited ? ### Response: Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for palmoplantar keratoderma with deafness ? ### Response: These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 47,XYY syndrome ? ### Response: 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 47,XYY syndrome ? ### Response: 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 47,XYY syndrome ? ### Response: People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). " "Below is an instruction from Human. Write a response. ### Instruction: Is 47,XYY syndrome inherited ? ### Response: Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 47,XYY syndrome ? ### Response: These resources address the diagnosis or management of 47,XYY syndrome: - Association for X and Y Chromosome Variations: Tell Me About 47,XYY - Genetic Testing Registry: Double Y syndrome These resources from MedlinePlus offer information about the diag " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leydig cell hypoplasia ? ### Response: Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leydig cell hypoplasia ? ### Response: Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Leydig cell hypoplasia ? ### Response: Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. " "Below is an instruction from Human. Write a response. ### Instruction: Is Leydig cell hypoplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leydig cell hypoplasia ? ### Response: These resources address the diagnosis or management of Leydig cell hypoplasia: - Genetic Testing Registry: Leydig cell agenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Intersex " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) permanent neonatal diabetes mellitus ? ### Response: Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by permanent neonatal diabetes mellitus ? ### Response: About 1 in 400,000 infants are diagnosed with diabetes mellitus in the first few months of life. However, in about half of these babies the condition is transient and goes away on its own by age 18 months. The remainder are considered to have permanent neonatal diabetes mellitus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to permanent neonatal diabetes mellitus ? ### Response: Permanent neonatal diabetes mellitus may be caused by mutations in several genes. About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is permanent neonatal diabetes mellitus inherited ? ### Response: Permanent neonatal diabetes mellitus can have different inheritance patterns. When this condition is caused by mutations in the KCNJ11 or INS gene it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for permanent neonatal diabetes mellitus ? ### Response: These resources address the diagnosis or management of permanent neonatal diabetes mellitus: - Gene Review: Gene Review: Permanent Neonatal Diabetes Mellitus - Genetic Testing Registry: Pancreatic agenesis, congenital - Genetic Testing Registry: Permanen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Camurati-Engelmann disease ? ### Response: Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Camurati-Engelmann disease ? ### Response: Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Camurati-Engelmann disease ? ### Response: Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Camurati-Engelmann disease ? ### Response: These resources address the diagnosis or management of Camurati-Engelmann disease: - Gene Review: Gene Review: Camurati-Engelmann Disease - Genetic Testing Registry: Diaphyseal dysplasia These resources from MedlinePlus offer information about the diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital contractural arachnodactyly ? ### Response: Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital contractural arachnodactyly ? ### Response: Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital contractural arachnodactyly ? ### Response: Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital contractural arachnodactyly ? ### Response: Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital contractural arachnodactyly ? ### Response: These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cole disease ? ### Response: Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cole disease ? ### Response: Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cole disease ? ### Response: Cole disease is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps to prevent minerals, including calcium, from being deposited in body tissues where they do not belong. It also plays a role in controlling cell signaling in response to the hormone insulin, through interaction between a part of the ENPP1 protein called the SMB2 domain and the insulin receptor. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cole disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases of this disorder, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cole disease ? ### Response: These resources address the diagnosis or management of Cole disease: - Genetic Testing Registry: Cole disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital central hypoventilation syndrome ? ### Response: Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital central hypoventilation syndrome ? ### Response: CCHS is a relatively rare disorder. Approximately 1,000 individuals with this condition have been identified. Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital central hypoventilation syndrome ? ### Response: Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital central hypoventilation syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital central hypoventilation syndrome ? ### Response: These resources address the diagnosis or management of CCHS: - Gene Review: Gene Review: Congenital Central Hypoventilation Syndrome - Genetic Testing Registry: Congenital central hypoventilation - MedlinePlus Encyclopedia: Hirschsprung's Disease These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi syndrome ? ### Response: Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi syndrome ? ### Response: Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Aicardi syndrome ? ### Response: The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. " "Below is an instruction from Human. Write a response. ### Instruction: Is Aicardi syndrome inherited ? ### Response: Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aicardi syndrome ? ### Response: These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's syndrome These resources from MedlinePlus offer information about t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) medium-chain acyl-CoA dehydrogenase deficiency ? ### Response: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) medium-chain acyl-CoA dehydrogenase deficiency ? ### Response: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to medium-chain acyl-CoA dehydrogenase deficiency ? ### Response: Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is medium-chain acyl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for medium-chain acyl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of MCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Medium-chain acyl-coenzyme A dehydrogenase deficienc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary hemochromatosis ? ### Response: Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hereditary hemochromatosis ? ### Response: Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary hemochromatosis inherited ? ### Response: Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary hemochromatosis ? ### Response: These resources address the diagnosis or management of hereditary hemochromatosis: - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis - Gene Review: Gene Review: TFR2-Rela " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) incontinentia pigmenti ? ### Response: Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by incontinentia pigmenti ? ### Response: Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to incontinentia pigmenti ? ### Response: Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is incontinentia pigmenti inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for incontinentia pigmenti ? ### Response: These resources address the diagnosis or management of incontinentia pigmenti: - Gene Review: Gene Review: Incontinentia Pigmenti - Genetic Testing Registry: Incontinentia pigmenti syndrome - MedlinePlus Encyclopedia: Incontinentia Pigmenti Syndrome Th " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stve-Wiedemann syndrome ? ### Response: Stve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stve-Wiedemann syndrome ? ### Response: Stve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Stve-Wiedemann syndrome ? ### Response: Stve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. " "Below is an instruction from Human. Write a response. ### Instruction: Is Stve-Wiedemann syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stve-Wiedemann syndrome ? ### Response: These resources address the diagnosis or management of Stve-Wiedemann syndrome: - Genetic Testing Registry: Stuve-Wiedemann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autoimmune lymphoproliferative syndrome ? ### Response: Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autoimmune lymphoproliferative syndrome ? ### Response: Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autoimmune lymphoproliferative syndrome ? ### Response: Mutations in the FAS gene cause ALPS in approximately 75 percent of affected individuals. The FAS gene provides instructions for making a protein involved in cell signaling that results in the self-destruction of cells (apoptosis). When the immune system is turned on (activated) to fight an infection, large numbers of lymphocytes are produced. " "Below is an instruction from Human. Write a response. ### Instruction: Is autoimmune lymphoproliferative syndrome inherited ? ### Response: In most people with ALPS, including the majority of those with FAS gene mutations, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autoimmune lymphoproliferative syndrome ? ### Response: These resources address the diagnosis or management of ALPS: - Gene Review: Gene Review: Autoimmune Lymphoproliferative Syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome - Genetic Testing Registry: Autoimmune lymphoproliferativ " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SOX2 anophthalmia syndrome ? ### Response: SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SOX2 anophthalmia syndrome ? ### Response: SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to SOX2 anophthalmia syndrome ? ### Response: Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein regulates the activity of other genes, especially those that are important for normal development of the eyes. " "Below is an instruction from Human. Write a response. ### Instruction: Is SOX2 anophthalmia syndrome inherited ? ### Response: SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the SOX2 gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SOX2 anophthalmia syndrome ? ### Response: These resources address the diagnosis or management of SOX2 anophthalmia syndrome: - Gene Review: Gene Review: SOX2-Related Eye Disorders - Genetic Testing Registry: Microphthalmia syndromic 3 - MedlinePlus Encyclopedia: Vision Problems These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 31 ? ### Response: Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle movement. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by spastic paraplegia type 31 ? ### Response: Spastic paraplegia type 31 is one of a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraplegia cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spastic paraplegia type 31 ? ### Response: Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 31 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microphthalmia with linear skin defects syndrome ? ### Response: Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microphthalmia with linear skin defects syndrome ? ### Response: Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to microphthalmia with linear skin defects syndrome ? ### Response: Mutations in the HCCS gene or a deletion of genetic material that includes the HCCS gene cause microphthalmia with linear skin defects syndrome. The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitochondria, the energy-producing centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is microphthalmia with linear skin defects syndrome inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for microphthalmia with linear skin defects syndrome ? ### Response: These resources address the diagnosis or management of microphthalmia with linear skin defects syndrome: - Gene Review: Gene Review: Microphthalmia with Linear Skin Defects Syndrome - Genetic Testing Registry: Microphthalmia, syndromic, 7 These resource " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dystrophic epidermolysis bullosa ? ### Response: Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dystrophic epidermolysis bullosa ? ### Response: Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dystrophic epidermolysis bullosa ? ### Response: Mutations in the COL7A1 gene cause all three major forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that is used to assemble type VII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is dystrophic epidermolysis bullosa inherited ? ### Response: The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dystrophic epidermolysis bullosa ? ### Response: These resources address the diagnosis or management of dystrophic epidermolysis bullosa: - Gene Review: Gene Review: Dystrophic Epidermolysis Bullosa - Genetic Testing Registry: Dystrophic epidermolysis bullosa - Genetic Testing Registry: Generalized dom " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leber congenital amaurosis ? ### Response: Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leber congenital amaurosis ? ### Response: Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Leber congenital amaurosis ? ### Response: Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detecting cells called photoreceptors. " "Below is an instruction from Human. Write a response. ### Instruction: Is Leber congenital amaurosis inherited ? ### Response: Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leber congenital amaurosis ? ### Response: These resources address the diagnosis or management of Leber congenital amaurosis: - Gene Review: Gene Review: Leber Congenital Amaurosis - Genetic Testing Registry: Leber congenital amaurosis 1 - Genetic Testing Registry: Leber congenital amaurosis 10 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aniridia ? ### Response: Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aniridia ? ### Response: Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to aniridia ? ### Response: Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb). " "Below is an instruction from Human. Write a response. ### Instruction: Is aniridia inherited ? ### Response: Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aniridia ? ### Response: These resources address the diagnosis or management of aniridia: - Gene Review: Gene Review: Aniridia - Genetic Testing Registry: Congenital aniridia These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelizaeus-Merzbacher disease ? ### Response: Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelizaeus-Merzbacher disease ? ### Response: Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pelizaeus-Merzbacher disease inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pelizaeus-Merzbacher disease ? ### Response: These resources address the diagnosis or management of Pelizaeus-Merzbacher disease: - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Pelizaeus-Merzbacher disease These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis type IV ? ### Response: Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis type IV ? ### Response: Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucolipidosis type IV ? ### Response: Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucolipidosis type IV inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucolipidosis type IV ? ### Response: These resources address the diagnosis or management of mucolipidosis type IV: - Gene Review: Gene Review: Mucolipidosis IV - Genetic Testing Registry: Ganglioside sialidase deficiency - MedlinePlus Encyclopedia: Gastrin These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thrombocytopenia-absent radius syndrome ? ### Response: Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thrombocytopenia-absent radius syndrome ? ### Response: Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to thrombocytopenia-absent radius syndrome ? ### Response: Mutations in the RBM8A gene cause TAR syndrome. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in several important cellular functions involving the production of other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is thrombocytopenia-absent radius syndrome inherited ? ### Response: TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chromosome 1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for thrombocytopenia-absent radius syndrome ? ### Response: These resources address the diagnosis or management of TAR syndrome: - Gene Review: Gene Review: Thrombocytopenia Absent Radius Syndrome - Genetic Testing Registry: Radial aplasia-thrombocytopenia syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnorm " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple pterygium syndrome ? ### Response: Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple pterygium syndrome ? ### Response: Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple pterygium syndrome ? ### Response: Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple pterygium syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple pterygium syndrome ? ### Response: These resources address the diagnosis or management of multiple pterygium syndrome: - Genetic Testing Registry: Lethal multiple pterygium syndrome - Genetic Testing Registry: Multiple pterygium syndrome Escobar type These resources from MedlinePlus offe " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary diffuse gastric cancer ? ### Response: Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary diffuse gastric cancer ? ### Response: Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary diffuse gastric cancer ? ### Response: It is likely that 30 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary diffuse gastric cancer ? ### Response: It is likely that 30 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary diffuse gastric cancer ? ### Response: These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary dif " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chronic atrial and intestinal dysrhythmia ? ### Response: Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chronic atrial and intestinal dysrhythmia ? ### Response: Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to chronic atrial and intestinal dysrhythmia ? ### Response: CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is chronic atrial and intestinal dysrhythmia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for chronic atrial and intestinal dysrhythmia ? ### Response: These resources address the diagnosis or management of chronic atrial and intestinal dysrhythmia: - Children's Hospital of Pittsburgh: Chronic Intestinal Pseudo-obstruction - Genetic Testing Registry: Chronic atrial and intestinal dysrhythmia - MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory and autonomic neuropathy type II ? ### Response: Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory and autonomic neuropathy type II ? ### Response: Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary sensory and autonomic neuropathy type II ? ### Response: There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the FAM134B gene. Although two different genes are involved, the signs and symptoms of HSAN2A and HSAN2B are the same. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary sensory and autonomic neuropathy type II inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary sensory and autonomic neuropathy type II ? ### Response: These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Her " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? ### Response: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? ### Response: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? ### Response: Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome inherited ? ### Response: When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? ### Response: These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) desmoid tumor ? ### Response: A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) desmoid tumor ? ### Response: A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to desmoid tumor ? ### Response: Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 10 to 15 percent of sporadic desmoid tumors. " "Below is an instruction from Human. Write a response. ### Instruction: Is desmoid tumor inherited ? ### Response: Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic desmoid tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for desmoid tumor ? ### Response: These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary These resources from MedlinePlus offe " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked sideroblastic anemia ? ### Response: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked sideroblastic anemia ? ### Response: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked sideroblastic anemia ? ### Response: Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of heme (a component of the hemoglobin protein) in bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked sideroblastic anemia inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked sideroblastic anemia ? ### Response: These resources address the diagnosis or management of X-linked sideroblastic anemia: - Genetic Testing Registry: Hereditary sideroblastic anemia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM2-gangliosidosis, AB variant ? ### Response: GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM2-gangliosidosis, AB variant ? ### Response: GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GM2-gangliosidosis, AB variant ? ### Response: Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: Is GM2-gangliosidosis, AB variant inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GM2-gangliosidosis, AB variant ? ### Response: These resources address the diagnosis or management of GM2-gangliosidosis, AB variant: - Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer information about the diagnosis and management of various health condi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHST3-related skeletal dysplasia ? ### Response: CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHST3-related skeletal dysplasia ? ### Response: CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CHST3-related skeletal dysplasia ? ### Response: As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. " "Below is an instruction from Human. Write a response. ### Instruction: Is CHST3-related skeletal dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CHST3-related skeletal dysplasia ? ### Response: These resources address the diagnosis or management of CHST3-related skeletal dysplasia: - Gene Review: Gene Review: CHST3-Related Skeletal Dysplasia - Genetic Testing Registry: Spondyloepiphyseal dysplasia with congenital joint dislocations These resou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple cutaneous and mucosal venous malformations ? ### Response: Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple cutaneous and mucosal venous malformations ? ### Response: Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple cutaneous and mucosal venous malformations ? ### Response: Mutations in the TEK gene (also called the TIE2 gene) cause VMCM. The TEK gene provides instructions for making a protein called TEK receptor tyrosine kinase. This receptor protein triggers chemical signals needed for forming blood vessels (angiogenesis) and maintaining their structure. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple cutaneous and mucosal venous malformations inherited ? ### Response: VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple cutaneous and mucosal venous malformations ? ### Response: These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformations These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondyloepimetaphyseal dysplasia, Strudwick type ? ### Response: Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondyloepimetaphyseal dysplasia, Strudwick type ? ### Response: Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloepimetaphyseal dysplasia, Strudwick type ? ### Response: Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloepimetaphyseal dysplasia, Strudwick type ? ### Response: Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spondyloepimetaphyseal dysplasia, Strudwick type ? ### Response: These resources address the diagnosis or management of spondyloepimetaphyseal dysplasia, Strudwick type: - Genetic Testing Registry: Spondyloepimetaphyseal dysplasia Strudwick type - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Simpson-Golabi-Behmel syndrome ? ### Response: Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Simpson-Golabi-Behmel syndrome ? ### Response: Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. " "Below is an instruction from Human. Write a response. ### Instruction: Is Simpson-Golabi-Behmel syndrome inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Simpson-Golabi-Behmel syndrome ? ### Response: These resources address the diagnosis or management of Simpson-Golabi-Behmel syndrome: - Gene Review: Gene Review: Simpson-Golabi-Behmel Syndrome Type 1 - Genetic Testing Registry: Simpson-Golabi-Behmel syndrome - MedlinePlus Encyclopedia: Diastasis Rect " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) uromodulin-associated kidney disease ? ### Response: Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) uromodulin-associated kidney disease ? ### Response: Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to uromodulin-associated kidney disease ? ### Response: Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to uromodulin-associated kidney disease ? ### Response: Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for uromodulin-associated kidney disease ? ### Response: These resources address the diagnosis or management of uromodulin-associated kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (ADTKD-UMOD) - Genetic Testing Registry: Familial juvenile gout - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked agammaglobulinemia ? ### Response: X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked agammaglobulinemia ? ### Response: X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked agammaglobulinemia ? ### Response: Mutations in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked agammaglobulinemia inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked agammaglobulinemia ? ### Response: These resources address the diagnosis or management of X-linked agammaglobulinemia: - Gene Review: Gene Review: X-Linked Agammaglobulinemia - Genetic Testing Registry: X-linked agammaglobulinemia - MedlinePlus Encyclopedia: Agammaglobulinemia These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile Batten disease ? ### Response: Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by juvenile Batten disease ? ### Response: Juvenile Batten disease is the most common type of NCL, but its exact prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile Batten disease ? ### Response: Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. It is unclear how mutations in the CLN3 gene lead to the characteristic features of juvenile Batten disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile Batten disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile Batten disease ? ### Response: These resources address the diagnosis or management of juvenile Batten disease: - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center - Batten Disease Support and Research Association: Centers of Excellence " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) potassium-aggravated myotonia ? ### Response: Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) potassium-aggravated myotonia ? ### Response: Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to potassium-aggravated myotonia ? ### Response: Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: Is potassium-aggravated myotonia inherited ? ### Response: Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for potassium-aggravated myotonia ? ### Response: These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of various health condit " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DICER1 syndrome ? ### Response: DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DICER1 syndrome ? ### Response: DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to DICER1 syndrome ? ### Response: DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the production of molecules called microRNA (miRNA). MicroRNA is a type of RNA, a chemical cousin of DNA, that attaches to a protein's blueprint (a molecule called messenger RNA) and blocks the production of proteins from it. " "Below is an instruction from Human. Write a response. ### Instruction: Is DICER1 syndrome inherited ? ### Response: DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not develop abnormal growths. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for DICER1 syndrome ? ### Response: These resources address the diagnosis or management of DICER1 syndrome: - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment - Gene Review: Gene Review: DICER1-Related Disorders - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Graves disease ? ### Response: Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Graves disease ? ### Response: Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Graves disease ? ### Response: Graves disease is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Graves disease is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: Is Graves disease inherited ? ### Response: The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Graves disease ? ### Response: These resources address the diagnosis or management of Graves disease: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Graves disease 2 - Genetic Testing Registry: Graves disease 3 - Genetic Testing Registry: Graves di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) McCune-Albright syndrome ? ### Response: McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) McCune-Albright syndrome ? ### Response: McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to McCune-Albright syndrome ? ### Response: McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. " "Below is an instruction from Human. Write a response. ### Instruction: Is McCune-Albright syndrome inherited ? ### Response: McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for McCune-Albright syndrome ? ### Response: These resources address the diagnosis or management of McCune-Albright syndrome: - Gene Review: Gene Review: Fibrous Dysplasia/McCune-Albright Syndrome - Genetic Testing Registry: McCune-Albright syndrome - MedlinePlus Encyclopedia: McCune-Albright syndr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SOST-related sclerosing bone dysplasia ? ### Response: SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misaligned teeth. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by SOST-related sclerosing bone dysplasia ? ### Response: SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to SOST-related sclerosing bone dysplasia ? ### Response: SOST-related sclerosing bone dysplasia is caused by mutations in or near the SOST gene. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone cell. The main function of sclerostin is to stop (inhibit) bone formation. " "Below is an instruction from Human. Write a response. ### Instruction: Is SOST-related sclerosing bone dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SOST-related sclerosing bone dysplasia ? ### Response: These resources address the diagnosis or management of SOST-related sclerosing bone dysplasia: - Gene Review: Gene Review: SOST-Related Sclerosing Bone Dysplasias - Genetic Testing Registry: Hyperphosphatasemia tarda - Genetic Testing Registry: Scleroste " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) rippling muscle disease ? ### Response: Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) rippling muscle disease ? ### Response: Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to rippling muscle disease ? ### Response: Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is rippling muscle disease inherited ? ### Response: Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern. Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for rippling muscle disease ? ### Response: These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagnosis and m " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile myoclonic epilepsy ? ### Response: Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile myoclonic epilepsy ? ### Response: Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile myoclonic epilepsy ? ### Response: The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and the EFHC1 gene, although mutations in at least three other genes have been identified in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile myoclonic epilepsy inherited ? ### Response: The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile myoclonic epilepsy ? ### Response: These resources address the diagnosis or management of juvenile myoclonic epilepsy: - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening - Genetic Testing Registry: Epilepsy, idiopathic generalized 10 - Genetic Testing Registry: Epil " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prostate cancer ? ### Response: Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by prostate cancer ? ### Response: About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. While most men who are diagnosed with prostate cancer do not die from it, this common cancer is still the second leading cause of cancer death among men in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to prostate cancer ? ### Response: Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of prostate cancer, these genetic changes are acquired during a man's lifetime and are present only in certain cells in the prostate. " "Below is an instruction from Human. Write a response. ### Instruction: Is prostate cancer inherited ? ### Response: Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate. When prostate cancer is related to inherited gene changes, the way that cancer risk is inherited depends on the gene involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) maternally inherited diabetes and deafness ? ### Response: Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) maternally inherited diabetes and deafness ? ### Response: Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to maternally inherited diabetes and deafness ? ### Response: Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). " "Below is an instruction from Human. Write a response. ### Instruction: Is maternally inherited diabetes and deafness inherited ? ### Response: MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for maternally inherited diabetes and deafness ? ### Response: These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Feil syndrome ? ### Response: Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Feil syndrome ? ### Response: Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klippel-Feil syndrome ? ### Response: These resources address the diagnosis or management of Klippel-Feil syndrome: - Genetic Testing Registry: Klippel Feil syndrome - Genetic Testing Registry: Klippel-Feil syndrome 1, autosomal dominant - Genetic Testing Registry: Klippel-Feil syndrome 2, a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) abdominal wall defect ? ### Response: An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by abdominal wall defect ? ### Response: Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do not survive to term (miscarriages and stillbirths). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to abdominal wall defect ? ### Response: No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. " "Below is an instruction from Human. Write a response. ### Instruction: Is abdominal wall defect inherited ? ### Response: Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. When an abdominal wall defect, most often omphalocele, is a feature of a genetic condition, it is inherited in the pattern of that condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for abdominal wall defect ? ### Response: These resources address the diagnosis or management of abdominal wall defect: - Cincinnati Children's Hospital: Gastroschisis - Cincinnati Children's Hospital: Omphalocele - Cleveland Clinic: Omphalocele - Genetic Testing Registry: Congenital omphalocel " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) REN-related kidney disease ? ### Response: REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) REN-related kidney disease ? ### Response: REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to REN-related kidney disease ? ### Response: Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to REN-related kidney disease ? ### Response: Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for REN-related kidney disease ? ### Response: These resources address the diagnosis or management of REN-related kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN) - Genetic Testing Registry: Hyperuricemic nephropathy, familial ju " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hyperaldosteronism ? ### Response: Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hyperaldosteronism ? ### Response: Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial hyperaldosteronism ? ### Response: The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial hyperaldosteronism ? ### Response: The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial hyperaldosteronism ? ### Response: These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acral peeling skin syndrome ? ### Response: Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term ""acral"" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acral peeling skin syndrome ? ### Response: Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term ""acral"" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to acral peeling skin syndrome ? ### Response: Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment. " "Below is an instruction from Human. Write a response. ### Instruction: Is acral peeling skin syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for acral peeling skin syndrome ? ### Response: These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) otospondylomegaepiphyseal dysplasia ? ### Response: Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) otospondylomegaepiphyseal dysplasia ? ### Response: Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to otospondylomegaepiphyseal dysplasia ? ### Response: Mutations in the COL11A2 gene cause OSMED. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. " "Below is an instruction from Human. Write a response. ### Instruction: Is otospondylomegaepiphyseal dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for otospondylomegaepiphyseal dysplasia ? ### Response: These resources address the diagnosis or management of OSMED: - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked severe combined immunodeficiency ? ### Response: X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked severe combined immunodeficiency ? ### Response: X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked severe combined immunodeficiency ? ### Response: Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked severe combined immunodeficiency inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked severe combined immunodeficiency ? ### Response: These resources address the diagnosis or management of X-linked SCID: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: X-Linked Severe Combined Immunodeficiency - Genetic Testing Registry: X-linked severe combined immunod " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Czech dysplasia ? ### Response: Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Czech dysplasia ? ### Response: Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Czech dysplasia ? ### Response: Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: Is Czech dysplasia inherited ? ### Response: Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. All known individuals with Czech dysplasia inherited the mutation from a parent with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Czech dysplasia ? ### Response: These resources address the diagnosis or management of Czech dysplasia: - Genetic Testing Registry: Czech dysplasia metatarsal type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rett syndrome ? ### Response: Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rett syndrome ? ### Response: Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Rett syndrome ? ### Response: Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). " "Below is an instruction from Human. Write a response. ### Instruction: Is Rett syndrome inherited ? ### Response: In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome and variants caused by MECP2 gene mutations have an X-linked dominant pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rett syndrome ? ### Response: These resources address the diagnosis or management of Rett syndrome: - Boston Children's Hospital - Cleveland Clinic - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Rett syndrome - International Rett Syndrome Foundation " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital afibrinogenemia ? ### Response: Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital afibrinogenemia ? ### Response: Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital afibrinogenemia ? ### Response: Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital afibrinogenemia inherited ? ### Response: Congenital afibrinogenemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. The parents have about half the normal level of fibrinogen in their blood but typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital afibrinogenemia ? ### Response: These resources address the diagnosis or management of congenital afibrinogenemia: - Genetic Testing Registry: Hereditary factor I deficiency disease These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM1 gangliosidosis ? ### Response: GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM1 gangliosidosis ? ### Response: GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GM1 gangliosidosis ? ### Response: Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. " "Below is an instruction from Human. Write a response. ### Instruction: Is GM1 gangliosidosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GM1 gangliosidosis ? ### Response: These resources address the diagnosis or management of GM1 gangliosidosis: - Genetic Testing Registry: Gangliosidosis GM1 type 3 - Genetic Testing Registry: Gangliosidosis generalized GM1 type 1 - Genetic Testing Registry: Infantile GM1 gangliosidosis - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alkaptonuria ? ### Response: Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alkaptonuria ? ### Response: Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alkaptonuria ? ### Response: Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. " "Below is an instruction from Human. Write a response. ### Instruction: Is alkaptonuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alkaptonuria ? ### Response: These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign chronic pemphigus ? ### Response: Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign chronic pemphigus ? ### Response: Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to benign chronic pemphigus ? ### Response: Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to benign chronic pemphigus ? ### Response: Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for benign chronic pemphigus ? ### Response: These resources address the diagnosis or management of benign chronic pemphigus: - American Osteopathic College of Dermatology - Genetic Testing Registry: Familial benign pemphigus These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Silver syndrome ? ### Response: Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Silver syndrome ? ### Response: Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Silver syndrome ? ### Response: Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Silver syndrome inherited ? ### Response: Silver syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Silver syndrome ? ### Response: These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary folate malabsorption ? ### Response: Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA. Infants with hereditary folate malabsorption are born with normal amounts of folates in their body because they obtain these vitamins from their mother's blood before birth. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hereditary folate malabsorption ? ### Response: The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary folate malabsorption ? ### Response: The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary folate malabsorption inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary folate malabsorption ? ### Response: These resources address the diagnosis or management of hereditary folate malabsorption: - Gene Review: Gene Review: Hereditary Folate Malabsorption - Genetic Testing Registry: Congenital defect of folate absorption - MedlinePlus Encyclopedia: Folate - M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MECP2 duplication syndrome ? ### Response: MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by MECP2 duplication syndrome ? ### Response: The prevalence of MECP2 duplication syndrome is unknown; approximately 120 affected individuals have been reported in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: Is MECP2 duplication syndrome inherited ? ### Response: MECP2 duplication syndrome is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a duplication of the only copy of the MECP2 gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MECP2 duplication syndrome ? ### Response: These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) paroxysmal nocturnal hemoglobinuria ? ### Response: Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) paroxysmal nocturnal hemoglobinuria ? ### Response: Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ? ### Response: Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. " "Below is an instruction from Human. Write a response. ### Instruction: Is paroxysmal nocturnal hemoglobinuria inherited ? ### Response: This condition is acquired, rather than inherited. It results from new mutations in the PIGA gene, and generally occurs in people with no previous history of the disorder in their family. The condition is not passed down to children of affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for paroxysmal nocturnal hemoglobinuria ? ### Response: These resources address the diagnosis or management of paroxysmal nocturnal hemoglobinuria: - Duke University School of Medicine: Hemostasis & Thrombosis Center - Genetic Testing Registry: Paroxysmal nocturnal hemoglobinuria - MedlinePlus Encyclopedia: P " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycine encephalopathy ? ### Response: Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycine encephalopathy ? ### Response: Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycine encephalopathy ? ### Response: Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycine encephalopathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycine encephalopathy ? ### Response: These resources address the diagnosis or management of glycine encephalopathy: - Baby's First Test - Gene Review: Gene Review: Glycine Encephalopathy - Genetic Testing Registry: Non-ketotic hyperglycinemia These resources from MedlinePlus offer informa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 6 ? ### Response: Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 6 ? ### Response: Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinocerebellar ataxia type 6 ? ### Response: Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinocerebellar ataxia type 6 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered CACNA1A gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often slightly increases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinocerebellar ataxia type 6 ? ### Response: These resources address the diagnosis or management of SCA6: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6 - Genetic Testing Registry: Spinocerebellar ataxia 6 These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) LAMA2-related muscular dystrophy ? ### Response: LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form. Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by LAMA2-related muscular dystrophy ? ### Response: The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to LAMA2-related muscular dystrophy ? ### Response: As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. " "Below is an instruction from Human. Write a response. ### Instruction: Is LAMA2-related muscular dystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for LAMA2-related muscular dystrophy ? ### Response: These resources address the diagnosis or management of LAMA2-related muscular dystrophy: - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy - Genetic Testing Registry: Cong " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mandibulofacial dysostosis with microcephaly ? ### Response: Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mandibulofacial dysostosis with microcephaly ? ### Response: Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mandibulofacial dysostosis with microcephaly ? ### Response: MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is mandibulofacial dysostosis with microcephaly inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mandibulofacial dysostosis with microcephaly ? ### Response: These resources address the diagnosis or management of MFDM: - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Guillain-Barr syndrome ? ### Response: Guillain-Barr syndrome is an autoimmune disorder that affects the nerves. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In Guillain-Barr syndrome, the immune response damages peripheral nerves, which are the nerves that connect the central nervous system (the brain and spinal cord) to the limbs and organs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Guillain-Barr syndrome ? ### Response: The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in those regions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Guillain-Barr syndrome ? ### Response: Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system, and their roles in fighting infection may contribute to the development of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Guillain-Barr syndrome inherited ? ### Response: Almost all cases of Guillain-Barr syndrome are sporadic, which means they occur in people with no history of the condition in their family. A few families with more than one affected family member have been described; however, the condition does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Guillain-Barr syndrome ? ### Response: These resources address the diagnosis or management of Guillain-Barr syndrome: - Genetic Testing Registry: Guillain-Barre syndrome, familial - National Institute of Neurological Disorders and Stroke: Guillain-Barr Syndrome Fact Sheet These resources fro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cystic fibrosis ? ### Response: Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by cystic fibrosis ? ### Response: Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cystic fibrosis ? ### Response: Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. " "Below is an instruction from Human. Write a response. ### Instruction: Is cystic fibrosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cystic fibrosis ? ### Response: These resources address the diagnosis or management of cystic fibrosis: - American Society for Reproductive Medicine: Male Infertility - Baby's First Test - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Cystic fibrosis - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile polyposis syndrome ? ### Response: Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition ""juvenile"" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile polyposis syndrome ? ### Response: Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition ""juvenile"" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile polyposis syndrome ? ### Response: Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome. These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus. This type of signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile polyposis syndrome inherited ? ### Response: Juvenile polyposis syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 75 percent of cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile polyposis syndrome ? ### Response: These resources address the diagnosis or management of juvenile polyposis syndrome: - Gene Review: Gene Review: Juvenile Polyposis Syndrome - Genetic Testing Registry: Juvenile polyposis syndrome - MedlinePlus Encyclopedia: Colorectal Polyps These reso " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q11.2 duplication ? ### Response: 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by 22q11.2 duplication ? ### Response: The prevalence of the 22q11.2 duplication in the general population is difficult to determine. Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental delay or other problems affecting themselves or a family member. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 22q11.2 duplication ? ### Response: People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb). " "Below is an instruction from Human. Write a response. ### Instruction: Is 22q11.2 duplication inherited ? ### Response: The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two copies of chromosome 22 in each cell. About 70 percent of affected individuals inherit the duplication from a parent. In other cases, the duplication is not inherited and instead occurs as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 22q11.2 duplication ? ### Response: These resources address the diagnosis or management of 22q11.2 duplication: - Gene Review: Gene Review: 22q11.2 Duplication - Genetic Testing Registry: 22q11.2 duplication syndrome These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barth syndrome ? ### Response: Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barth syndrome ? ### Response: Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Barth syndrome ? ### Response: Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. " "Below is an instruction from Human. Write a response. ### Instruction: Is Barth syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Barth syndrome ? ### Response: These resources address the diagnosis or management of Barth syndrome: - Cleveland Clinic: Dilated Cardiomyopathy - Gene Review: Gene Review: Barth Syndrome - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 - Johns Hopkins Children's Center " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moebius syndrome ? ### Response: Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth. Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moebius syndrome ? ### Response: Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth. Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Moebius syndrome ? ### Response: The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes 3, 10, or 13 in some families. " "Below is an instruction from Human. Write a response. ### Instruction: Is Moebius syndrome inherited ? ### Response: Most cases of Moebius syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a single clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Moebius syndrome ? ### Response: These resources address the diagnosis or management of Moebius syndrome: - Boston Children's Hospital - Cleveland Clinic - Genetic Testing Registry: Oromandibular-limb hypogenesis spectrum - Swedish Information Centre for Rare Diseases: Diagnosis and Tr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? ### Response: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? ### Response: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. " "Below is an instruction from Human. Write a response. ### Instruction: Is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? ### Response: These resources address the diagnosis or management of ALSP: - Gene Review: Gene Review: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - Genetic Testing Registry: Hereditary diffuse leukoencephalopathy with spheroids - MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Y chromosome infertility ? ### Response: Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Y chromosome infertility ? ### Response: Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Y chromosome infertility ? ### Response: As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). " "Below is an instruction from Human. Write a response. ### Instruction: Is Y chromosome infertility inherited ? ### Response: Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the Y chromosome to all their sons. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Y chromosome infertility ? ### Response: These resources address the diagnosis or management of Y chromosome infertility: - Gene Review: Gene Review: Y Chromosome Infertility - Genetic Testing Registry: Spermatogenic failure, Y-linked 2 - Genetic Testing Registry: Spermatogenic failure, Y-linke " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Larsen syndrome ? ### Response: Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Larsen syndrome ? ### Response: Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Larsen syndrome ? ### Response: Mutations in the FLNB gene cause Larsen syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is Larsen syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Larsen syndrome ? ### Response: These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type These resources from Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperprolinemia ? ### Response: Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperprolinemia ? ### Response: Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperprolinemia ? ### Response: Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. Inherited hyperprolinemia is caused by deficiencies in the enzymes that break down (degrade) proline. Hyperprolinemia type I is caused by a mutation in the PRODH gene, which provides instructions for producing the enzyme proline oxidase. " "Below is an instruction from Human. Write a response. ### Instruction: Is hyperprolinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hyperprolinemia ? ### Response: These resources address the diagnosis or management of hyperprolinemia: - Baby's First Test - Genetic Testing Registry: Deficiency of pyrroline-5-carboxylate reductase - Genetic Testing Registry: Proline dehydrogenase deficiency These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atelosteogenesis type 1 ? ### Response: Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atelosteogenesis type 1 ? ### Response: Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to atelosteogenesis type 1 ? ### Response: Mutations in the FLNB gene cause atelosteogenesis type 1. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is atelosteogenesis type 1 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for atelosteogenesis type 1 ? ### Response: These resources address the diagnosis or management of atelosteogenesis type 1: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 1 These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolf-Hirschhorn syndrome ? ### Response: Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat nasal bridge and a high forehead. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Wolf-Hirschhorn syndrome ? ### Response: The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wolf-Hirschhorn syndrome ? ### Response: Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wolf-Hirschhorn syndrome inherited ? ### Response: Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolf-Hirschhorn syndrome ? ### Response: These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from Med " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sandhoff disease ? ### Response: Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sandhoff disease ? ### Response: Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Sandhoff disease ? ### Response: Mutations in the HEXB gene cause Sandhoff disease. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sandhoff disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sandhoff disease ? ### Response: These resources address the diagnosis or management of Sandhoff disease: - Genetic Testing Registry: Sandhoff disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha-methylacyl-CoA racemase deficiency ? ### Response: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha-methylacyl-CoA racemase deficiency ? ### Response: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alpha-methylacyl-CoA racemase deficiency ? ### Response: AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is alpha-methylacyl-CoA racemase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alpha-methylacyl-CoA racemase deficiency ? ### Response: These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary hyperekplexia ? ### Response: Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary hyperekplexia ? ### Response: Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary hyperekplexia ? ### Response: At least five genes are associated with hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). They play a role in how neurons respond to a molecule called glycine. This molecule acts as a neurotransmitter, which is a chemical messenger that transmits signals in the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary hyperekplexia inherited ? ### Response: Hereditary hyperekplexia has different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary hyperekplexia ? ### Response: These resources address the diagnosis or management of hereditary hyperekplexia: - Gene Review: Gene Review: Hyperekplexia - Genetic Testing Registry: Early infantile epileptic encephalopathy 8 - Genetic Testing Registry: Hyperekplexia hereditary These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MECP2-related severe neonatal encephalopathy ? ### Response: MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MECP2-related severe neonatal encephalopathy ? ### Response: MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to MECP2-related severe neonatal encephalopathy ? ### Response: Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them on or off as they are needed. " "Below is an instruction from Human. Write a response. ### Instruction: Is MECP2-related severe neonatal encephalopathy inherited ? ### Response: MECP2-related severe neonatal encephalopathy has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MECP2-related severe neonatal encephalopathy ? ### Response: These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Severe neonatal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Andermann syndrome ? ### Response: Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Andermann syndrome ? ### Response: Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few individuals with this disorder have been identified in other regions of the world. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Andermann syndrome ? ### Response: Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. " "Below is an instruction from Human. Write a response. ### Instruction: Is Andermann syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Andermann syndrome ? ### Response: These resources address the diagnosis or management of Andermann syndrome: - Gene Review: Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - Genetic Testing Registry: Andermann syndrome These resources from Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital myasthenic syndrome ? ### Response: Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital myasthenic syndrome ? ### Response: Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital myasthenic syndrome ? ### Response: Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved in the normal function of the neuromuscular junction. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital myasthenic syndrome inherited ? ### Response: This condition is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital myasthenic syndrome ? ### Response: These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Conge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cherubism ? ### Response: Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cherubism ? ### Response: Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cherubism ? ### Response: Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cherubism ? ### Response: Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cherubism ? ### Response: These resources address the diagnosis or management of cherubism: - Gene Review: Gene Review: Cherubism - Genetic Testing Registry: Fibrous dysplasia of jaw These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alport syndrome ? ### Response: Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alport syndrome ? ### Response: Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Alport syndrome ? ### Response: Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys, specifically in structures called glomeruli. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alport syndrome inherited ? ### Response: Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alport syndrome ? ### Response: These resources address the diagnosis or management of Alport syndrome: - Gene Review: Gene Review: Alport Syndrome and Thin Basement Membrane Nephropathy - Genetic Testing Registry: Alport syndrome - Genetic Testing Registry: Alport syndrome, X-linked r " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) branchiootorenal/branchiootic syndrome ? ### Response: Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) branchiootorenal/branchiootic syndrome ? ### Response: Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: Is branchiootorenal/branchiootic syndrome inherited ? ### Response: BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for branchiootorenal/branchiootic syndrome ? ### Response: These resources address the diagnosis or management of branchiootorenal/branchiootic syndrome: - Gene Review: Gene Review: Branchiootorenal Spectrum Disorders - Genetic Testing Registry: Branchiootic syndrome - Genetic Testing Registry: Branchiootic synd " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) deafness-dystonia-optic neuronopathy syndrome ? ### Response: Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjrg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) deafness-dystonia-optic neuronopathy syndrome ? ### Response: Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjrg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ? ### Response: Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. " "Below is an instruction from Human. Write a response. ### Instruction: Is deafness-dystonia-optic neuronopathy syndrome inherited ? ### Response: DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for deafness-dystonia-optic neuronopathy syndrome ? ### Response: These resources address the diagnosis or management of deafness-dystonia-optic neuronopathy syndrome: - Gene Review: Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome - Genetic Testing Registry: Mohr-Tranebjaerg syndrome These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Milroy disease ? ### Response: Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Milroy disease ? ### Response: Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Milroy disease ? ### Response: Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. " "Below is an instruction from Human. Write a response. ### Instruction: Is Milroy disease inherited ? ### Response: Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Milroy disease ? ### Response: These resources address the diagnosis or management of Milroy disease: - Gene Review: Gene Review: Milroy Disease - Genetic Testing Registry: Hereditary lymphedema type I - MedlinePlus Encyclopedia: Lymphatic Obstruction These resources from MedlinePlu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) frontonasal dysplasia ? ### Response: Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to frontonasal dysplasia ? ### Response: Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is frontonasal dysplasia inherited ? ### Response: When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for frontonasal dysplasia ? ### Response: These resources address the diagnosis or management of frontonasal dysplasia: - Genetic Testing Registry: Frontonasal dysplasia 1 - Genetic Testing Registry: Frontonasal dysplasia 2 - Genetic Testing Registry: Frontonasal dysplasia 3 - KidsHealth from N " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) FOXG1 syndrome ? ### Response: FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) FOXG1 syndrome ? ### Response: FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to FOXG1 syndrome ? ### Response: As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene. This gene provides instructions for making a protein called forkhead box G1. This protein plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. " "Below is an instruction from Human. Write a response. ### Instruction: Is FOXG1 syndrome inherited ? ### Response: FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations or deletions involving the FOXG1 gene and have occurred in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for FOXG1 syndrome ? ### Response: These resources address the diagnosis or management of FOXG1 syndrome: - Genetic Testing Registry: Rett syndrome, congenital variant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperparathyroidism-jaw tumor syndrome ? ### Response: Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ? ### Response: Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ? ### Response: Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hyperparathyroidism-jaw tumor syndrome ? ### Response: These resources address the diagnosis or management of hyperparathyroidism-jaw tumor syndrome: - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 2 - MedlinePlus Encyclopedia: Hyperparathyroidism These r " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile idiopathic arthritis ? ### Response: Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by juvenile idiopathic arthritis ? ### Response: The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile idiopathic arthritis ? ### Response: Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term ""idiopathic"" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile idiopathic arthritis inherited ? ### Response: Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile idiopathic arthritis ? ### Response: These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sudden infant death with dysgenesis of the testes syndrome ? ### Response: Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sudden infant death with dysgenesis of the testes syndrome ? ### Response: Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sudden infant death with dysgenesis of the testes syndrome ? ### Response: A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is sudden infant death with dysgenesis of the testes syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sudden infant death with dysgenesis of the testes syndrome ? ### Response: These resources address the diagnosis or management of SIDDT: - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Sudden infant death with dysgenesis of the testes syndrome These resources from MedlinePlus offer informati " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cystinuria ? ### Response: Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cystinuria ? ### Response: Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cystinuria ? ### Response: Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. " "Below is an instruction from Human. Write a response. ### Instruction: Is cystinuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cystinuria ? ### Response: These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperferritinemia-cataract syndrome ? ### Response: Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperferritinemia-cataract syndrome ? ### Response: Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperferritinemia-cataract syndrome ? ### Response: Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperferritinemia-cataract syndrome ? ### Response: Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hyperferritinemia-cataract syndrome ? ### Response: These resources address the diagnosis or management of hyperferritinemia-cataract syndrome: - Boston Children's Hospital: Cataracts in Children - Genetic Testing Registry: Hyperferritinemia cataract syndrome - MedlinePlus Encyclopedia: Cataract Removal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few rare cases may result from new mutations in the NOTCH3 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: These resources address the diagnosis or management of CADASIL: - Butler Hospital: Treatment and Management of CADASIL - Gene Review: Gene Review: CADASIL - Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with subcortical infarcts and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) junctional epidermolysis bullosa ? ### Response: Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) junctional epidermolysis bullosa ? ### Response: Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to junctional epidermolysis bullosa ? ### Response: Junctional epidermolysis bullosa results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause Herlitz JEB or non-Herlitz JEB. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. " "Below is an instruction from Human. Write a response. ### Instruction: Is junctional epidermolysis bullosa inherited ? ### Response: Both types of junctional epidermolysis bullosa are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for junctional epidermolysis bullosa ? ### Response: These resources address the diagnosis or management of junctional epidermolysis bullosa: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Junctional Epidermolysis Bullosa - Genetic Testing Registry " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langerhans cell histiocytosis ? ### Response: Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langerhans cell histiocytosis ? ### Response: Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Langerhans cell histiocytosis ? ### Response: Somatic mutations in the BRAF gene have been identified in the Langerhans cells of about half of individuals with Langerhans cell histiocytosis. Somatic gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are not inherited. " "Below is an instruction from Human. Write a response. ### Instruction: Is Langerhans cell histiocytosis inherited ? ### Response: Langerhans cell histiocytosis is usually not inherited and typically occurs in people with no history of the disorder in their family. A few families with multiple cases of Langerhans cell histiocytosis have been identified, but the inheritance pattern is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Langerhans cell histiocytosis ? ### Response: These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Hospital - St. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) childhood myocerebrohepatopathy spectrum ? ### Response: Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) childhood myocerebrohepatopathy spectrum ? ### Response: Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to childhood myocerebrohepatopathy spectrum ? ### Response: MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. " "Below is an instruction from Human. Write a response. ### Instruction: Is childhood myocerebrohepatopathy spectrum inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for childhood myocerebrohepatopathy spectrum ? ### Response: These resources address the diagnosis or management of MCHS: - Gene Review: Gene Review: POLG-Related Disorders - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crouzon syndrome ? ### Response: Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crouzon syndrome ? ### Response: Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Crouzon syndrome ? ### Response: Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Crouzon syndrome ? ### Response: Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crouzon syndrome ? ### Response: These resources address the diagnosis or management of Crouzon syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoglycerate dehydrogenase deficiency ? ### Response: Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoglycerate dehydrogenase deficiency ? ### Response: Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to phosphoglycerate dehydrogenase deficiency ? ### Response: Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency. The PHGDH gene provides instructions for making the parts (subunits) that make up the phosphoglycerate dehydrogenase enzyme. Four PHGDH subunits combine to form the enzyme. This enzyme is involved in the production of the protein building block (amino acid) serine. " "Below is an instruction from Human. Write a response. ### Instruction: Is phosphoglycerate dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for phosphoglycerate dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of phosphoglycerate dehydrogenase deficiency: - Genetic Testing Registry: Phosphoglycerate dehydrogenase deficiency - Seattle Children's Hospital: Epilepsy Symptoms and Diagnosis These resources from M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hajdu-Cheney syndrome ? ### Response: Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continues to break down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hajdu-Cheney syndrome ? ### Response: Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continues to break down. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Hajdu-Cheney syndrome ? ### Response: Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When a ligand binds to the Notch2 receptor, it triggers signals that are important for the normal development and function of many different types of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hajdu-Cheney syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH2 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hajdu-Cheney syndrome ? ### Response: These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) molybdenum cofactor deficiency ? ### Response: Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by molybdenum cofactor deficiency ? ### Response: Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher. " "Below is an instruction from Human. Write a response. ### Instruction: Is molybdenum cofactor deficiency inherited ? ### Response: Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for molybdenum cofactor deficiency ? ### Response: These resources address the diagnosis or management of molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Geneti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) focal dermal hypoplasia ? ### Response: Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) focal dermal hypoplasia ? ### Response: Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to focal dermal hypoplasia ? ### Response: Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is focal dermal hypoplasia inherited ? ### Response: Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for focal dermal hypoplasia ? ### Response: These resources address the diagnosis or management of focal dermal hypoplasia: - Gene Review: Gene Review: Focal Dermal Hypoplasia - Genetic Testing Registry: Focal dermal hypoplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encycl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) limb-girdle muscular dystrophy ? ### Response: Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) limb-girdle muscular dystrophy ? ### Response: Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to limb-girdle muscular dystrophy ? ### Response: The various forms of limb-girdle muscular dystrophy are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair. Some of the proteins produced from these genes assemble with other proteins into larger protein complexes. " "Below is an instruction from Human. Write a response. ### Instruction: Is limb-girdle muscular dystrophy inherited ? ### Response: Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pitt-Hopkins syndrome ? ### Response: Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pitt-Hopkins syndrome ? ### Response: Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pitt-Hopkins syndrome ? ### Response: Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pitt-Hopkins syndrome ? ### Response: Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pitt-Hopkins syndrome ? ### Response: These resources address the diagnosis or management of Pitt-Hopkins syndrome: - Gene Review: Gene Review: Pitt-Hopkins Syndrome - Genetic Testing Registry: Pitt-Hopkins syndrome These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHOPS syndrome ? ### Response: CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name ""CHOPS"" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHOPS syndrome ? ### Response: CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name ""CHOPS"" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CHOPS syndrome ? ### Response: CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is CHOPS syndrome inherited ? ### Response: CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CHOPS syndrome ? ### Response: These resources address the diagnosis or management of CHOPS syndrome: - Genetic Testing Registry: Chops syndrome - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery These resources from MedlinePlus offer information about the diag " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Netherton syndrome ? ### Response: Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Netherton syndrome ? ### Response: Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Netherton syndrome ? ### Response: Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Netherton syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Netherton syndrome ? ### Response: These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kabuki syndrome ? ### Response: Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kabuki syndrome ? ### Response: Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kabuki syndrome ? ### Response: Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. Between 55 and 80 percent of cases of Kabuki syndrome are caused by mutations in the KMT2D gene. This gene provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kabuki syndrome inherited ? ### Response: When Kabuki syndrome is caused by mutations in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kabuki syndrome ? ### Response: These resources address the diagnosis or management of Kabuki syndrome: - Boston Children's Hospital - Gene Review: Gene Review: Kabuki Syndrome - Genetic Testing Registry: Kabuki make-up syndrome - Genetic Testing Registry: Kabuki syndrome 2 These re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyruvate kinase deficiency ? ### Response: Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by pyruvate kinase deficiency ? ### Response: Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. More than 500 affected families have been identified, and studies suggest that the disorder may be underdiagnosed because mild cases may not be identified. Pyruvate kinase deficiency is found in all ethnic groups. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pyruvate kinase deficiency ? ### Response: Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. " "Below is an instruction from Human. Write a response. ### Instruction: Is pyruvate kinase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pyruvate kinase deficiency ? ### Response: These resources address the diagnosis or management of pyruvate kinase deficiency: - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia - Genetic Testing Registry: Pyruvate kinase deficiency of red cells - Johns Hopkins Medicine: Hemolytic A " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PMM2-congenital disorder of glycosylation ? ### Response: PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PMM2-congenital disorder of glycosylation ? ### Response: PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to PMM2-congenital disorder of glycosylation ? ### Response: PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is PMM2-congenital disorder of glycosylation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for PMM2-congenital disorder of glycosylation ? ### Response: These resources address the diagnosis or management of PMM2-CDG: - Gene Review: Gene Review: PMM2-CDG (CDG-Ia) - Genetic Testing Registry: Carbohydrate-deficient glycoprotein syndrome type I These resources from MedlinePlus offer information about the d " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trisomy 13 ? ### Response: Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). " "Below is an instruction from Human. Write a response. ### Instruction: Is trisomy 13 inherited ? ### Response: Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for trisomy 13 ? ### Response: These resources address the diagnosis or management of trisomy 13: - Genetic Testing Registry: Complete trisomy 13 syndrome - MedlinePlus Encyclopedia: Trisomy 13 These resources from MedlinePlus offer information about the diagnosis and management of v " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive cerebellar ataxia type 1 ? ### Response: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive cerebellar ataxia type 1 ? ### Response: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive cerebellar ataxia type 1 ? ### Response: Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive cerebellar ataxia type 1 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive cerebellar ataxia type 1 ? ### Response: These resources address the diagnosis or management of ARCA1: - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 - Johns Hopkins Medicine Department of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chediak-Higashi syndrome ? ### Response: Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chediak-Higashi syndrome ? ### Response: Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Chediak-Higashi syndrome ? ### Response: Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes and similar cell structures. " "Below is an instruction from Human. Write a response. ### Instruction: Is Chediak-Higashi syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chediak-Higashi syndrome ? ### Response: These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - Intern " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bartter syndrome ? ### Response: Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bartter syndrome ? ### Response: Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bartter syndrome ? ### Response: Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bartter syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bartter syndrome ? ### Response: These resources address the diagnosis or management of Bartter syndrome: - Genetic Testing Registry: Bartter syndrome antenatal type 1 - Genetic Testing Registry: Bartter syndrome antenatal type 2 - Genetic Testing Registry: Bartter syndrome type 3 - Ge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital plasminogen deficiency ? ### Response: Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital plasminogen deficiency ? ### Response: The prevalence of congenital plasminogen deficiency has been estimated at 1.6 per one million people. This condition is believed to be underdiagnosed, because growths in one area are often not recognized as being a feature of a disorder that affects many body systems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital plasminogen deficiency ? ### Response: Congenital plasminogen deficiency is caused by mutations in the PLG gene. This gene provides instructions for making a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital plasminogen deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital plasminogen deficiency ? ### Response: These resources address the diagnosis or management of congenital plasminogen deficiency: - Genetic Testing Registry: Plasminogen deficiency, type I - Indiana Hemophilia and Thrombosis Center - Plasminogen Deficiency Registry These resources from Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) intrahepatic cholestasis of pregnancy ? ### Response: Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by intrahepatic cholestasis of pregnancy ? ### Response: Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is found less frequently in other populations. " "Below is an instruction from Human. Write a response. ### Instruction: Is intrahepatic cholestasis of pregnancy inherited ? ### Response: Susceptibility to intrahepatic cholestasis of pregnancy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing the disorder. Some women with an altered gene do not develop intrahepatic cholestasis of pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for intrahepatic cholestasis of pregnancy ? ### Response: These resources address the diagnosis or management of intrahepatic cholestasis of pregnancy: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Cholestasis of pregnancy These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) methemoglobinemia, beta-globin type ? ### Response: Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) methemoglobinemia, beta-globin type ? ### Response: Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to methemoglobinemia, beta-globin type ? ### Response: Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to methemoglobinemia, beta-globin type ? ### Response: Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for methemoglobinemia, beta-globin type ? ### Response: These resources address the diagnosis or management of methemoglobinemia, beta-globin type: - Genetic Testing Registry: Methemoglobinemia, beta-globin type - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glucose-galactose malabsorption ? ### Response: Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by glucose-galactose malabsorption ? ### Response: Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems. This condition may be a milder variation of glucose-galactose malabsorption. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glucose-galactose malabsorption ? ### Response: Mutations in the SLC5A1 gene cause glucose-galactose malabsorption. The SLC5A1 gene provides instructions for producing a sodium/glucose cotransporter protein called SGLT1. This protein is found mainly in the intestinal tract and, to a lesser extent, in the kidneys, where it is involved in transporting glucose and the structurally similar galactose across cell membranes. " "Below is an instruction from Human. Write a response. ### Instruction: Is glucose-galactose malabsorption inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glucose-galactose malabsorption ? ### Response: These resources address the diagnosis or management of glucose-galactose malabsorption: - Genetic Testing Registry: Congenital glucose-galactose malabsorption These resources from MedlinePlus offer information about the diagnosis and management of variou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fibronectin glomerulopathy ? ### Response: Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and proteinuria, respectively). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fibronectin glomerulopathy ? ### Response: Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and proteinuria, respectively). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fibronectin glomerulopathy ? ### Response: Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is fibronectin glomerulopathy inherited ? ### Response: When fibronectin glomerulopathy is caused by mutations in the FN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fibronectin glomerulopathy ? ### Response: These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Trenaunay syndrome ? ### Response: Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel-Trenaunay syndrome ? ### Response: Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Klippel-Trenaunay syndrome ? ### Response: The cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. " "Below is an instruction from Human. Write a response. ### Instruction: Is Klippel-Trenaunay syndrome inherited ? ### Response: Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition may result from gene mutations that are not inherited. These genetic changes, which are called somatic mutations, probably occur very early in development and are present only in certain cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klippel-Trenaunay syndrome ? ### Response: These resources address the diagnosis or management of Klippel-Trenaunay syndrome: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Klippel Trenaunay syndrome - Seattle Children's Hospital These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aarskog-Scott syndrome ? ### Response: Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Aarskog-Scott syndrome ? ### Response: Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: Is Aarskog-Scott syndrome inherited ? ### Response: Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aarskog-Scott syndrome ? ### Response: These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and managemen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fibrochondrogenesis ? ### Response: Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fibrochondrogenesis ? ### Response: Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fibrochondrogenesis ? ### Response: Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. These genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. " "Below is an instruction from Human. Write a response. ### Instruction: Is fibrochondrogenesis inherited ? ### Response: Fibrochondrogenesis is generally inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fibrochondrogenesis ? ### Response: These resources address the diagnosis or management of fibrochondrogenesis: - Genetic Testing Registry: Fibrochondrogenesis - Genetic Testing Registry: Fibrochondrogenesis 2 These resources from MedlinePlus offer information about the diagnosis and mana " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hyperinsulinism ? ### Response: Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hyperinsulinism ? ### Response: Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital hyperinsulinism ? ### Response: Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced by beta cells in the pancreas. Insulin clears excess sugar (in the form of glucose) from the bloodstream by passing glucose into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital hyperinsulinism inherited ? ### Response: Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital hyperinsulinism ? ### Response: These resources address the diagnosis or management of congenital hyperinsulinism: - Gene Review: Gene Review: Familial Hyperinsulinism - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia - Genetic Testing Registry: Familial hyperi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Floating-Harbor syndrome ? ### Response: Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Floating-Harbor syndrome ? ### Response: Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Floating-Harbor syndrome ? ### Response: Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulating cell growth and division and is important for normal development. " "Below is an instruction from Human. Write a response. ### Instruction: Is Floating-Harbor syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Floating-Harbor syndrome result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Floating-Harbor syndrome ? ### Response: These resources address the diagnosis or management of Floating-Harbor syndrome: - Gene Review: Gene Review: Floating-Harbor Syndrome - Genetic Testing Registry: Floating-Harbor syndrome - KidsHealth: Bone Age Study These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dilated cardiomyopathy with ataxia syndrome ? ### Response: Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dilated cardiomyopathy with ataxia syndrome ? ### Response: Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dilated cardiomyopathy with ataxia syndrome ? ### Response: Mutations in the DNAJC19 gene cause DCMA syndrome. The DNAJC19 gene provides instructions for making a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, it may regulate the transport of other proteins into and out of mitochondria. " "Below is an instruction from Human. Write a response. ### Instruction: Is dilated cardiomyopathy with ataxia syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dilated cardiomyopathy with ataxia syndrome ? ### Response: These resources address the diagnosis or management of dilated cardiomyopathy with ataxia syndrome: - Ann & Robert H. Lurie Children's Hospital of Chicago: Cardiomyopathy - Baby's First Test - Genetic Testing Registry: 3-methylglutaconic aciduria type V " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sjgren syndrome ? ### Response: Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age. Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Sjgren syndrome ? ### Response: Sjgren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Sjgren syndrome ? ### Response: Sjgren syndrome is thought to result from a combination of genetic and environmental factors; however, no associations between specific genetic changes and the development of Sjgren syndrome have been confirmed. Researchers believe that variations in many genes affect the risk of developing Sjgren syndrome, but that development of the condition may be triggered by something in the environment. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sjgren syndrome inherited ? ### Response: A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sjgren syndrome ? ### Response: These resources address the diagnosis or management of Sjgren syndrome: - Genetic Testing Registry: Sjgren's syndrome - MedlinePlus Encyclopedia: Schirmer's Test - National Institute of Dental and Craniofacial Research: Sjgren's Syndrome Clinic - Sjgren " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 1 ? ### Response: Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 1 ? ### Response: Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). " "Below is an instruction from Human. Write a response. ### Instruction: Is spinocerebellar ataxia type 1 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA1 do not have a parent with the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinocerebellar ataxia type 1 ? ### Response: These resources address the diagnosis or management of SCA1: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 1 - Genetic Testing Registry: Spinocerebellar ataxia 1 These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MEGDEL syndrome ? ### Response: MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L). MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MEGDEL syndrome ? ### Response: MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L). MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to MEGDEL syndrome ? ### Response: MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol. " "Below is an instruction from Human. Write a response. ### Instruction: Is MEGDEL syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MEGDEL syndrome ? ### Response: These resources address the diagnosis or management of MEGDEL syndrome: - Baby's First Test: 3-Methylglutaconic Aciduria - Gene Review: Gene Review: MEGDEL Syndrome - Genetic Testing Registry: 3-methylglutaconic aciduria with deafness, encephalopathy, an " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal muscular atrophy with progressive myoclonic epilepsy ? ### Response: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ? ### Response: SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinal muscular atrophy with progressive myoclonic epilepsy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinal muscular atrophy with progressive myoclonic epilepsy ? ### Response: These resources address the diagnosis or management of spinal muscular atrophy with progressive myoclonic epilepsy: - Genetic Testing Registry: Jankovic Rivera syndrome - Muscular Dystrophy Association: Spinal Muscular Atrophy Types These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coats plus syndrome ? ### Response: Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coats plus syndrome ? ### Response: Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Coats plus syndrome ? ### Response: Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). " "Below is an instruction from Human. Write a response. ### Instruction: Is Coats plus syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coats plus syndrome ? ### Response: These resources address the diagnosis or management of Coats plus syndrome: - Genetic Testing Registry: Cerebroretinal microangiopathy with calcifications and cysts These resources from MedlinePlus offer information about the diagnosis and management of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retinoblastoma ? ### Response: Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retinoblastoma ? ### Response: Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to retinoblastoma ? ### Response: Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unable to regulate cell division effectively. " "Below is an instruction from Human. Write a response. ### Instruction: Is retinoblastoma inherited ? ### Response: Researchers estimate that 40 percent of all retinoblastomas are germinal, which means that RB1 mutations occur in all of the body's cells, including reproductive cells (sperm or eggs). People with germinal retinoblastoma may have a family history of the disease, and they are at risk of passing on the mutated RB1 gene to the next generation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for retinoblastoma ? ### Response: These resources address the diagnosis or management of retinoblastoma: - Gene Review: Gene Review: Retinoblastoma - Genetic Testing Registry: Retinoblastoma - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Retinoblastoma - National Cance " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Donohue syndrome ? ### Response: Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Donohue syndrome ? ### Response: Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Donohue syndrome ? ### Response: Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is Donohue syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Donohue syndrome ? ### Response: These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) amelogenesis imperfecta ? ### Response: Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) amelogenesis imperfecta ? ### Response: Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to amelogenesis imperfecta ? ### Response: Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes provide instructions for making proteins that are essential for normal tooth development. Most of these proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. " "Below is an instruction from Human. Write a response. ### Instruction: Is amelogenesis imperfecta inherited ? ### Response: Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Many cases are caused by mutations in the FAM83H gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for amelogenesis imperfecta ? ### Response: These resources address the diagnosis or management of amelogenesis imperfecta: - Genetic Testing Registry: Amelogenesis imperfecta - hypoplastic autosomal dominant - local - Genetic Testing Registry: Amelogenesis imperfecta, hypocalcification type - Gen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Roberts syndrome ? ### Response: Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome. Children with Roberts syndrome are born with abnormalities of all four limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Roberts syndrome ? ### Response: Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome. Children with Roberts syndrome are born with abnormalities of all four limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Roberts syndrome ? ### Response: Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. " "Below is an instruction from Human. Write a response. ### Instruction: Is Roberts syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Roberts syndrome ? ### Response: These resources address the diagnosis or management of Roberts syndrome: - Gene Review: Gene Review: Roberts Syndrome - Genetic Testing Registry: Roberts-SC phocomelia syndrome - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial paroxysmal nonkinesigenic dyskinesia ? ### Response: Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial paroxysmal nonkinesigenic dyskinesia ? ### Response: Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ? ### Response: Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial paroxysmal nonkinesigenic dyskinesia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial paroxysmal nonkinesigenic dyskinesia ? ### Response: These resources address the diagnosis or management of familial paroxysmal nonkinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Nonkinesigenic Dyskinesia - Genetic Testing Registry: Paroxysmal choreoathetosis - Genetic Testing Regis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolfram syndrome ? ### Response: Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolfram syndrome ? ### Response: Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wolfram syndrome ? ### Response: Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. This gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell communication, the tensing (contraction) of muscles, and protein processing. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wolfram syndrome inherited ? ### Response: When Wolfram syndrome is caused by mutations in the WFS1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolfram syndrome ? ### Response: These resources address the diagnosis or management of Wolfram syndrome: - Gene Review: Gene Review: WFS1-Related Disorders - Genetic Testing Registry: Diabetes mellitus AND insipidus with optic atrophy AND deafness - Genetic Testing Registry: Wolfram syndrome 2 - Johns Hopkins Medicine: Diabetes Insipidus - MedlinePlus Encyclopedia: Diabetes Insipidus--Central - Washington University, St. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) preeclampsia ? ### Response: Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension) and can also have abnormally high levels of protein in their urine. This condition usually occurs in the last few months of pregnancy and often requires the early delivery of the infant. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) preeclampsia ? ### Response: Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension) and can also have abnormally high levels of protein in their urine. This condition usually occurs in the last few months of pregnancy and often requires the early delivery of the infant. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to preeclampsia ? ### Response: The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to preeclampsia ? ### Response: The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for preeclampsia ? ### Response: These resources address the diagnosis or management of preeclampsia: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP syndrome? - Eunice Kennedy Shr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ollier disease ? ### Response: Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ollier disease ? ### Response: Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ollier disease ? ### Response: In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ollier disease inherited ? ### Response: Ollier disease is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ollier disease ? ### Response: These resources address the diagnosis or management of Ollier disease: - Genetic Testing Registry: Enchondromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive hypotrichosis ? ### Response: Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive hypotrichosis ? ### Response: Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive hypotrichosis ? ### Response: Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive hypotrichosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive hypotrichosis ? ### Response: These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information abou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liddle syndrome ? ### Response: Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liddle syndrome ? ### Response: Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Liddle syndrome ? ### Response: Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, where the channels transport sodium into cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Liddle syndrome ? ### Response: Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, where the channels transport sodium into cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Liddle syndrome ? ### Response: These resources address the diagnosis or management of Liddle syndrome: - Genetic Testing Registry: Pseudoprimary hyperaldosteronism - Merck Manual for Health Care Professionals These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial male-limited precocious puberty ? ### Response: Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial male-limited precocious puberty ? ### Response: Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial male-limited precocious puberty ? ### Response: Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial male-limited precocious puberty inherited ? ### Response: This condition is inherited in an autosomal dominant, male-limited pattern, which means one copy of the altered LHCGR gene in each cell is sufficient to cause the disorder in males. Females with mutations associated with familial male-limited precocious puberty appear to be unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial male-limited precocious puberty ? ### Response: These resources address the diagnosis or management of familial male-limited precocious puberty: - Boston Children's Hospital: Precocious Puberty - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity These resources from Medline " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pantothenate kinase-associated neurodegeneration ? ### Response: Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pantothenate kinase-associated neurodegeneration ? ### Response: Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pantothenate kinase-associated neurodegeneration ? ### Response: Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule called coenzyme A. " "Below is an instruction from Human. Write a response. ### Instruction: Is pantothenate kinase-associated neurodegeneration inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pantothenate kinase-associated neurodegeneration ? ### Response: These resources address the diagnosis or management of pantothenate kinase-associated neurodegeneration: - Gene Review: Gene Review: Pantothenate Kinase-Associated Neurodegeneration - Genetic Testing Registry: Hypoprebetalipoproteinemia, acanthocytosis, r " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) xeroderma pigmentosum ? ### Response: Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) xeroderma pigmentosum ? ### Response: Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to xeroderma pigmentosum ? ### Response: Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. " "Below is an instruction from Human. Write a response. ### Instruction: Is xeroderma pigmentosum inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) transthyretin amyloidosis ? ### Response: Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by transthyretin amyloidosis ? ### Response: The exact incidence of transthyretin amyloidosis is unknown. In northern Portugal, the incidence of this condition is thought to be one in 538 people. Transthyretin amyloidosis is less common among Americans of European descent, where it is estimated to affect one in 100,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: Is transthyretin amyloidosis inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Rarely, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for transthyretin amyloidosis ? ### Response: These resources address the diagnosis or management of transthyretin amyloidosis: - Boston University: Amyloid Treatment & Research Program - Gene Review: Gene Review: Familial Transthyretin Amyloidosis - Genetic Testing Registry: Amyloidogenic transthyr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) enlarged parietal foramina ? ### Response: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) enlarged parietal foramina ? ### Response: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to enlarged parietal foramina ? ### Response: Mutations in the ALX4 gene account for 60 percent of cases of enlarged parietal foramina and mutations in the MSX2 gene account for 40 percent of cases. These genes provide instructions for producing proteins called transcription factors, which are required for proper development throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is enlarged parietal foramina inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. However, in rare cases, people who inherit an altered gene do not have enlarged parietal foramina. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for enlarged parietal foramina ? ### Response: These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Reg " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign essential blepharospasm ? ### Response: Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign essential blepharospasm ? ### Response: Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to benign essential blepharospasm ? ### Response: The causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at risk. " "Below is an instruction from Human. Write a response. ### Instruction: Is benign essential blepharospasm inherited ? ### Response: Most cases of benign essential blepharospasm are sporadic, which means that the condition occurs in people with no history of this disorder or other forms of dystonia in their family. Less commonly, benign essential blepharospasm has been found to run in families. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for benign essential blepharospasm ? ### Response: These resources address the diagnosis or management of benign essential blepharospasm: - Benign Essential Blepharospasm Research Foundation: Botulinum Toxin for Treatment of Blepharospasm - Dystonia Medical Research Foundation: Treatments for dystonia - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tyrosinemia ? ### Response: Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by tyrosinemia ? ### Response: Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This type is more common in Norway where 1 in 60,000 to 74,000 individuals are affected. Tyrosinemia type I is even more common in Quebec, Canada where it occurs in about 1 in 16,000 individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tyrosinemia ? ### Response: Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively. In the liver, enzymes break down tyrosine in a five step process, resulting in molecules that are either excreted by the kidneys or used to produce energy or make other substances in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is tyrosinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tyrosinemia ? ### Response: These resources address the diagnosis or management of tyrosinemia: - Baby's First Test: Tyrosinemia, Type I - Baby's First Test: Tyrosinemia, Type II - Baby's First Test: Tyrosinemia, Type III - Gene Review: Gene Review: Tyrosinemia Type I - Genetic T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muckle-Wells syndrome ? ### Response: Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent ""flare-ups"" that begin during infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muckle-Wells syndrome ? ### Response: Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent ""flare-ups"" that begin during infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Muckle-Wells syndrome ? ### Response: Mutations in the NLRP3 gene (also known as CIAS1) cause Muckle-Wells syndrome. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Muckle-Wells syndrome ? ### Response: Mutations in the NLRP3 gene (also known as CIAS1) cause Muckle-Wells syndrome. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Muckle-Wells syndrome ? ### Response: These resources address the diagnosis or management of Muckle-Wells syndrome: - Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness These resources from MedlinePlus offer information about the diagnosis and management of va " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3MC syndrome ? ### Response: 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3MC syndrome ? ### Response: 3MC syndrome is caused by mutations in the COLEC11 or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of reactions called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during early development before birth to form the organs and systems of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3MC syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3MC syndrome ? ### Response: These resources address the diagnosis or management of 3MC syndrome: - Genetic Testing Registry: Carnevale syndrome - Genetic Testing Registry: Craniofacial-ulnar-renal syndrome - Genetic Testing Registry: Malpuech facial clefting syndrome - Genetic Tes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tyrosine hydroxylase deficiency ? ### Response: Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe. The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tyrosine hydroxylase deficiency ? ### Response: Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe. The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tyrosine hydroxylase deficiency ? ### Response: Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. " "Below is an instruction from Human. Write a response. ### Instruction: Is tyrosine hydroxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tyrosine hydroxylase deficiency ? ### Response: These resources address the diagnosis or management of TH deficiency: - Gene Review: Gene Review: Tyrosine Hydroxylase Deficiency - Genetic Testing Registry: Segawa syndrome, autosomal recessive These resources from MedlinePlus offer information about t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Treacher Collins syndrome ? ### Response: Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Treacher Collins syndrome ? ### Response: Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Treacher Collins syndrome ? ### Response: Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is Treacher Collins syndrome inherited ? ### Response: When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Treacher Collins syndrome ? ### Response: These resources address the diagnosis or management of Treacher Collins syndrome: - Gene Review: Gene Review: Treacher Collins Syndrome - Genetic Testing Registry: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - Genetic Testing R " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fabry disease ? ### Response: Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Fabry disease ? ### Response: Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fabry disease inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the GLA gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fabry disease ? ### Response: These resources address the diagnosis or management of Fabry disease: - Baby's First Test - Gene Review: Gene Review: Fabry Disease - Genetic Testing Registry: Fabry disease These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by warfarin sensitivity ? ### Response: The prevalence of warfarin sensitivity is unknown. However, it appears to be more common in people who are older, those with lower body weights, and individuals of Asian ancestry. Of the approximately 2 million people in the U.S. who are prescribed warfarin annually, 35,000 to 45,000 individuals go to hospital emergency rooms with warfarin-related adverse drug events. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to warfarin sensitivity ? ### Response: Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. " "Below is an instruction from Human. Write a response. ### Instruction: Is warfarin sensitivity inherited ? ### Response: The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. However, different polymorphisms affect the activity of warfarin to varying degrees. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for warfarin sensitivity ? ### Response: These resources address the diagnosis or management of warfarin sensitivity: - Food and Drug Administration Medication Guide - MedlinePlus Drugs & Supplements: Warfarin - My46 Trait Profile - PharmGKB - WarfarinDosing.org These resources from Medline " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apert syndrome ? ### Response: Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apert syndrome ? ### Response: Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Apert syndrome ? ### Response: Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet. " "Below is an instruction from Human. Write a response. ### Instruction: Is Apert syndrome inherited ? ### Response: Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Apert syndrome ? ### Response: These resources address the diagnosis or management of Apert syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Acrocephalosyndactyly type I - MedlinePlus Encyclopedia: Apert syndrome - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microphthalmia ? ### Response: Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microphthalmia ? ### Response: Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to microphthalmia ? ### Response: Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in very small numbers of affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is microphthalmia inherited ? ### Response: Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for microphthalmia ? ### Response: These resources address the diagnosis or management of microphthalmia: - Gene Review: Gene Review: Microphthalmia/Anophthalmia/Coloboma Spectrum - Genetic Testing Registry: Cataract, congenital, with microphthalmia - Genetic Testing Registry: Cataract, m " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) STING-associated vasculopathy with onset in infancy ? ### Response: STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) STING-associated vasculopathy with onset in infancy ? ### Response: STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to STING-associated vasculopathy with onset in infancy ? ### Response: SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: Is STING-associated vasculopathy with onset in infancy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, this condition likely results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for STING-associated vasculopathy with onset in infancy ? ### Response: These resources address the diagnosis or management of SAVI: - Beth Israel Deaconess Medical Center: Autoinflammatory Disease Center - Eurofever Project - Genetic Testing Registry: Sting-associated vasculopathy, infantile-onset - University College Lond " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ornithine transcarbamylase deficiency ? ### Response: Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ornithine transcarbamylase deficiency ? ### Response: Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ornithine transcarbamylase deficiency ? ### Response: Mutations in the OTC gene cause ornithine transcarbamylase deficiency. Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is ornithine transcarbamylase deficiency inherited ? ### Response: Ornithine transcarbamylase deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ornithine transcarbamylase deficiency ? ### Response: These resources address the diagnosis or management of ornithine transcarbamylase deficiency: - Baby's First Test - Gene Review: Gene Review: Ornithine Transcarbamylase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive congenital stationary night blindness ? ### Response: Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive congenital stationary night blindness ? ### Response: Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive congenital stationary night blindness ? ### Response: Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive congenital stationary night blindness inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive congenital stationary night blindness ? ### Response: These resources address the diagnosis or management of autosomal recessive congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness, type 1B - Genetic Testing Registry: Congenital stationary night blindness, " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary ciliary dyskinesia ? ### Response: Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary ciliary dyskinesia ? ### Response: Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary ciliary dyskinesia ? ### Response: Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is primary ciliary dyskinesia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary ciliary dyskinesia ? ### Response: These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Ciliary dyskinesia, primary, 17 - Genetic Testing Registry: Kartagener syndrome - Genet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) maple syrup urine disease ? ### Response: Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) maple syrup urine disease ? ### Response: Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to maple syrup urine disease ? ### Response: Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs. " "Below is an instruction from Human. Write a response. ### Instruction: Is maple syrup urine disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for maple syrup urine disease ? ### Response: These resources address the diagnosis or management of maple syrup urine disease: - Baby's First Test - Gene Review: Gene Review: Maple Syrup Urine Disease - Genetic Testing Registry: Maple syrup urine disease - MedlinePlus Encyclopedia: Maple Syrup Uri " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? ### Response: Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? ### Response: Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: Is short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay inherited ? ### Response: SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? ### Response: These resources address the diagnosis or management of SHORT syndrome: - Gene Review: Gene Review: SHORT Syndrome - Genetic Testing Registry: SHORT syndrome These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nakajo-Nishimura syndrome ? ### Response: Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nakajo-Nishimura syndrome ? ### Response: Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Nakajo-Nishimura syndrome ? ### Response: Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making one part (subunit) of specialized cell structures called immunoproteasomes, which are found primarily in immune system cells. Immunoproteasomes play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nakajo-Nishimura syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nakajo-Nishimura syndrome ? ### Response: These resources address the diagnosis or management of Nakajo-Nishimura syndrome: - Genetic Testing Registry: Nakajo syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypermanganesemia with dystonia, polycythemia, and cirrhosis ? ### Response: Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is an inherited disorder in which excessive amounts of the element manganese accumulate in the body, particularly in the brain, liver, and blood (hypermanganesemia). Signs and symptoms of this condition can appear in childhood (early-onset), typically between ages 2 and 15, or in adulthood (adult-onset). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypermanganesemia with dystonia, polycythemia, and cirrhosis ? ### Response: Mutations in the SLC30A10 gene cause HMDPC. This gene provides instructions for making a protein that transports manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain and liver cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypermanganesemia with dystonia, polycythemia, and cirrhosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ? ### Response: These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and cirrh " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gyrate atrophy of the choroid and retina ? ### Response: Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gyrate atrophy of the choroid and retina ? ### Response: Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to gyrate atrophy of the choroid and retina ? ### Response: Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where it helps break down a molecule called ornithine. " "Below is an instruction from Human. Write a response. ### Instruction: Is gyrate atrophy of the choroid and retina inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for gyrate atrophy of the choroid and retina ? ### Response: These resources address the diagnosis or management of gyrate atrophy: - Baby's First Test - Genetic Testing Registry: Ornithine aminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) bladder cancer ? ### Response: Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) bladder cancer ? ### Response: Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to bladder cancer ? ### Response: As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. Studies suggest that chronic bladder inflammation, a parasitic infection called schistosomiasis, and some medications used to treat cancer are other environmental risk factors associated with bladder cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to bladder cancer ? ### Response: As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. Studies suggest that chronic bladder inflammation, a parasitic infection called schistosomiasis, and some medications used to treat cancer are other environmental risk factors associated with bladder cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for bladder cancer ? ### Response: These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer These resources from MedlinePlus offer information about the diagnosis and m " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carnitine-acylcarnitine translocase deficiency ? ### Response: Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carnitine-acylcarnitine translocase deficiency ? ### Response: Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to carnitine-acylcarnitine translocase deficiency ? ### Response: Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is carnitine-acylcarnitine translocase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for carnitine-acylcarnitine translocase deficiency ? ### Response: These resources address the diagnosis or management of CACT deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sitosterolemia ? ### Response: Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by sitosterolemia ? ### Response: Only 80 to 100 individuals with sitosterolemia have been described in the medical literature. However, researchers believe that this condition is likely underdiagnosed because mild cases often do not come to medical attention. Studies suggest that the prevalence may be at least 1 in 50,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sitosterolemia ? ### Response: Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells. Sterolin is a transporter protein, which is a type of protein that moves substances across cell membranes. " "Below is an instruction from Human. Write a response. ### Instruction: Is sitosterolemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sitosterolemia ? ### Response: These resources address the diagnosis or management of sitosterolemia: - Gene Review: Gene Review: Sitosterolemia - Genetic Testing Registry: Sitosterolemia - Massachusetts General Hospital: Lipid Metabolism These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ? ### Response: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). " "Below is an instruction from Human. Write a response. ### Instruction: Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ? ### Response: This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for blepharophimosis, ptosis, and epicanthus inversus syndrome ? ### Response: These resources address the diagnosis or management of BPES: - Gene Review: Gene Review: Blepharophimosis, Ptosis, and Epicanthus Inversus - Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inversus - MedlinePlus Encyclopedia: Ptosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tumor necrosis factor receptor-associated periodic syndrome ? ### Response: Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by tumor necrosis factor receptor-associated periodic syndrome ? ### Response: TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than 1,000 people worldwide have been diagnosed with TRAPS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ? ### Response: TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of cells, where it attaches (binds) to another protein called tumor necrosis factor (TNF). " "Below is an instruction from Human. Write a response. ### Instruction: Is tumor necrosis factor receptor-associated periodic syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of TRAPS. (This situation is known as reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ? ### Response: These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) These resources from MedlinePlus offer inform " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kawasaki disease ? ### Response: Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral mucosa), tongue, palms of the hands, and soles of the feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kawasaki disease ? ### Response: The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an infection may be involved. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kawasaki disease inherited ? ### Response: A predisposition to Kawasaki disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kawasaki disease ? ### Response: These resources address the diagnosis or management of Kawasaki disease: - Cincinnati Children's Hospital Medical Center - Genetic Testing Registry: Acute febrile mucocutaneous lymph node syndrome - National Heart, Lung, and Blood Institute: How is Kawas " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial Mediterranean fever ? ### Response: Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by familial Mediterranean fever ? ### Response: Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial Mediterranean fever ? ### Response: Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial Mediterranean fever inherited ? ### Response: Familial Mediterranean fever is almost always inherited in an autosomal recessive pattern, which means both copies of the MEFV gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial Mediterranean fever ? ### Response: These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia with vitamin E deficiency ? ### Response: Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia with vitamin E deficiency ? ### Response: Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ataxia with vitamin E deficiency ? ### Response: Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the -tocopherol transfer protein (TTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called -tocopherol) to cells and tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is ataxia with vitamin E deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ataxia with vitamin E deficiency ? ### Response: These resources address the diagnosis or management of ataxia with vitamin E deficiency: - Gene Review: Gene Review: Ataxia with Vitamin E Deficiency - Genetic Testing Registry: Ataxia with vitamin E deficiency - MedlinePlus Encyclopedia: Retinitis pigme " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) achromatopsia ? ### Response: Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by achromatopsia ? ### Response: Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia. Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands of Micronesia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to achromatopsia ? ### Response: Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders. Achromatopsia is a disorder of the retina, which is the light-sensitive tissue at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: Is achromatopsia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for achromatopsia ? ### Response: These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermolysis bullosa with pyloric atresia ? ### Response: Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermolysis bullosa with pyloric atresia ? ### Response: Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to epidermolysis bullosa with pyloric atresia ? ### Response: EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes. These genes provide instructions for making proteins with critical roles in the skin and digestive tract. ITGB4 gene mutations are the most common cause of EB-PA; these mutations are responsible for about 80 percent of all cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is epidermolysis bullosa with pyloric atresia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for epidermolysis bullosa with pyloric atresia ? ### Response: These resources address the diagnosis or management of epidermolysis bullosa with pyloric atresia: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa with Pyloric Atresia - Gene " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Warsaw breakage syndrome ? ### Response: Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Warsaw breakage syndrome ? ### Response: Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Warsaw breakage syndrome ? ### Response: Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. " "Below is an instruction from Human. Write a response. ### Instruction: Is Warsaw breakage syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Warsaw breakage syndrome ? ### Response: These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Loss--Infants " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpenter syndrome ? ### Response: Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpenter syndrome ? ### Response: Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Carpenter syndrome ? ### Response: Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome. The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. " "Below is an instruction from Human. Write a response. ### Instruction: Is Carpenter syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Carpenter syndrome ? ### Response: These resources address the diagnosis or management of Carpenter syndrome: - Genetic Testing Registry: Carpenter syndrome 1 - Genetic Testing Registry: Carpenter syndrome 2 - Great Ormond Street Hospital for Children (UK): Craniosynostosis Information - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Potocki-Shaffer syndrome ? ### Response: Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Potocki-Shaffer syndrome ? ### Response: Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Potocki-Shaffer syndrome ? ### Response: Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11.2. The size of the deletion varies among affected individuals. Studies suggest that the full spectrum of features is caused by a deletion of at least 2. " "Below is an instruction from Human. Write a response. ### Instruction: Is Potocki-Shaffer syndrome inherited ? ### Response: Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Potocki-Shaffer syndrome ? ### Response: These resources address the diagnosis or management of Potocki-Shaffer syndrome: - Genetic Testing Registry: Potocki-Shaffer syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteogenesis imperfecta ? ### Response: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term ""osteogenesis imperfecta"" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteogenesis imperfecta ? ### Response: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term ""osteogenesis imperfecta"" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to osteogenesis imperfecta ? ### Response: Mutations in the COL1A1, COL1A2, CRTAP, and P3H1 genes cause osteogenesis imperfecta. Mutations in the COL1A1 and COL1A2 genes are responsible for more than 90 percent of all cases of osteogenesis imperfecta. These genes provide instructions for making proteins that are used to assemble type I collagen. " "Below is an instruction from Human. Write a response. ### Instruction: Is osteogenesis imperfecta inherited ? ### Response: Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for osteogenesis imperfecta ? ### Response: These resources address the diagnosis or management of osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imperfecta t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lung cancer ? ### Response: Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, breathing problems, trouble swallowing or speaking, blood in the mucus, loss of appetite and weight loss, fatigue, or swelling in the face or neck. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by lung cancer ? ### Response: In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lung cancer ? ### Response: Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In nearly all cases of lung cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the lung. " "Below is an instruction from Human. Write a response. ### Instruction: Is lung cancer inherited ? ### Response: Most cases of lung cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung. When lung cancer is related to inherited gene changes, the cancer risk is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lung cancer ? ### Response: These resources address the diagnosis or management of lung cancer: - Genetic Testing Registry: Lung cancer - Genetic Testing Registry: Non-small cell lung cancer - Lung Cancer Mutation Consortium: About Mutation Testing - MedlinePlus Encyclopedia: Lung " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. " "Below is an instruction from Human. Write a response. ### Instruction: Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? ### Response: As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) galactosialidosis ? ### Response: Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (hydrops fetalis), a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen (hepatosplenomegaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to galactosialidosis ? ### Response: Mutations in the CTSA gene cause all forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. " "Below is an instruction from Human. Write a response. ### Instruction: Is galactosialidosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for galactosialidosis ? ### Response: These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fetal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory and autonomic neuropathy type IE ? ### Response: Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory and autonomic neuropathy type IE ? ### Response: Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ? ### Response: HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ? ### Response: HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary sensory and autonomic neuropathy type IE ? ### Response: These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: Center for Peripheral Neuropathy Th " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CAV3-related distal myopathy ? ### Response: CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CAV3-related distal myopathy ? ### Response: CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CAV3-related distal myopathy ? ### Response: CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is CAV3-related distal myopathy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with CAV3-related distal myopathy or another caveolinopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CAV3-related distal myopathy ? ### Response: These resources address the diagnosis or management of CAV3-related distal myopathy: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: CAV3-Related Distal Myopathy - Genetic Testing Registry: Distal myopathy, Tateyama type - Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) galactosemia ? ### Response: Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) galactosemia ? ### Response: Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to galactosemia ? ### Response: Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is galactosemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for galactosemia ? ### Response: These resources address the diagnosis or management of galactosemia: - Baby's First Test: Classic Galactosemia - Baby's First Test: Galactoepimerase Deficiency - Baby's First Test: Galactokinase Deficiency - Gene Review: Gene Review: Classic Galactosemi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erdheim-Chester disease ? ### Response: Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Erdheim-Chester disease ? ### Response: Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Erdheim-Chester disease ? ### Response: More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Erdheim-Chester disease ? ### Response: More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Erdheim-Chester disease ? ### Response: These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ohdo syndrome, Maat-Kievit-Brunner type ? ### Response: The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ohdo syndrome, Maat-Kievit-Brunner type ? ### Response: The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ohdo syndrome, Maat-Kievit-Brunner type ? ### Response: The Maat-Kievit-Brunner type of Ohdo syndrome results from mutations in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is thought to play an essential role in development both before and after birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ohdo syndrome, Maat-Kievit-Brunner type inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ohdo syndrome, Maat-Kievit-Brunner type ? ### Response: These resources address the diagnosis or management of Ohdo syndrome, Maat-Kievit-Brunner type: - Genetic Testing Registry: Ohdo syndrome, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health co " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Huntington disease-like syndrome ? ### Response: As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Huntington disease-like syndrome ? ### Response: Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common. HDL2 is the second most common and occurs almost exclusively in people of African heritage (especially black South Africans). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Huntington disease-like syndrome ? ### Response: In about one percent of people with the characteristic features of Huntington disease, no mutation in the HD gene has been identified. Mutations in the PRNP, JPH3, and TBP genes have been found to cause the signs and symptoms in some of these individuals. HDL1 is caused by mutations in the PRNP gene, while HDL2 results from mutations in JPH3. " "Below is an instruction from Human. Write a response. ### Instruction: Is Huntington disease-like syndrome inherited ? ### Response: HDL1, HDL2, and HDL4 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. As the mutation responsible for HDL2 or HDL4 is passed down from one generation to the next, the length of the repeated DNA segment may increase. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Huntington disease-like syndrome ? ### Response: These resources address the diagnosis or management of Huntington disease-like syndrome: - Gene Review: Gene Review: Huntington Disease-Like 2 - Gene Review: Gene Review: Spinocerebellar Ataxia Type 17 - Genetic Testing Registry: Huntington disease-like " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lymphangioleiomyomatosis ? ### Response: Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. LAM is found almost exclusively in women. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lymphangioleiomyomatosis ? ### Response: Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. LAM is found almost exclusively in women. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lymphangioleiomyomatosis ? ### Response: Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is lymphangioleiomyomatosis inherited ? ### Response: Sporadic LAM is not inherited. Instead, researchers suggest that it is caused by a random mutation in the TSC1 or TSC2 gene that occurs very early in development. As a result, some of the body's cells have a normal version of the gene, while others have the mutated version. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lymphangioleiomyomatosis ? ### Response: These resources address the diagnosis or management of LAM: - Canadian Lung Association - Genetic Testing Registry: Lymphangiomyomatosis - Merck Manual for Healthcare Professionals - National Heart, Lung, and Blood Institute: How is LAM Diagnosed? - Na " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) VACTERL association ? ### Response: VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) VACTERL association ? ### Response: VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to VACTERL association ? ### Response: VACTERL association is a complex condition that may have different causes in different people. In some people, the condition is likely caused by the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied. " "Below is an instruction from Human. Write a response. ### Instruction: Is VACTERL association inherited ? ### Response: Most cases of VACTERL association are sporadic, which means they occur in people with no history of the condition in their family. Rarely, families have multiple people affected with VACTERL association. A few affected individuals have family members with one or two features, but not enough signs to be diagnosed with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for VACTERL association ? ### Response: These resources address the diagnosis or management of VACTERL association: - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair These resources from MedlinePlus offer information about the diagnosis and management of vario " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) age-related macular degeneration ? ### Response: Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by age-related macular degeneration ? ### Response: Age-related macular degeneration has an estimated prevalence of 1 in 2,000 people in the United States and other developed countries. The condition currently affects several million Americans, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to age-related macular degeneration ? ### Response: Age-related macular degeneration results from a combination of genetic and environmental factors. Many of these factors have been identified, but some remain unknown. Researchers have considered changes in many genes as possible risk factors for age-related macular degeneration. " "Below is an instruction from Human. Write a response. ### Instruction: Is age-related macular degeneration inherited ? ### Response: Age-related macular degeneration usually does not have a clear-cut pattern of inheritance, although the condition appears to run in families in some cases. An estimated 15 to 20 percent of people with age-related macular degeneration have at least one first-degree relative (such as a sibling) with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for age-related macular degeneration ? ### Response: These resources address the diagnosis or management of age-related macular degeneration: - BrightFocus Foundation: Macular Degeneration Treatment - Genetic Testing Registry: Age-related macular degeneration - Genetic Testing Registry: Age-related macular " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) propionic acidemia ? ### Response: Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) propionic acidemia ? ### Response: Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to propionic acidemia ? ### Response: Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is propionic acidemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for propionic acidemia ? ### Response: These resources address the diagnosis or management of propionic acidemia: - Baby's First Test - Gene Review: Gene Review: Propionic Acidemia - Genetic Testing Registry: Propionic acidemia These resources from MedlinePlus offer information about the di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) early-onset primary dystonia ? ### Response: Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by early-onset primary dystonia ? ### Response: Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people worldwide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to early-onset primary dystonia ? ### Response: A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is early-onset primary dystonia inherited ? ### Response: Mutations in the TOR1A gene are inherited in an autosomal dominant pattern, which means one of the two copies of the gene is altered in each cell. Many people who have a mutation in this gene are not affected by the disorder and may never know they have the mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for early-onset primary dystonia ? ### Response: These resources address the diagnosis or management of early-onset primary dystonia: - Gene Review: Gene Review: DYT1 Early-Onset Primary Dystonia - Genetic Testing Registry: Dystonia 1 - MedlinePlus Encyclopedia: Movement - uncontrolled or slow These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermolysis bullosa simplex ? ### Response: Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermolysis bullosa simplex ? ### Response: Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to epidermolysis bullosa simplex ? ### Response: The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). " "Below is an instruction from Human. Write a response. ### Instruction: Is epidermolysis bullosa simplex inherited ? ### Response: Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for epidermolysis bullosa simplex ? ### Response: These resources address the diagnosis or management of epidermolysis bullosa simplex: - Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America: Wound Care - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - G " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fatty acid hydroxylase-associated neurodegeneration ? ### Response: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence. Changes in the way a person walks (gait) and frequent falls are usually the first noticeable signs of FAHN. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fatty acid hydroxylase-associated neurodegeneration ? ### Response: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence. Changes in the way a person walks (gait) and frequent falls are usually the first noticeable signs of FAHN. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fatty acid hydroxylase-associated neurodegeneration ? ### Response: Mutations in the FA2H gene cause FAHN. The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular point on a fatty acid to create a 2-hydroxylated fatty acid. " "Below is an instruction from Human. Write a response. ### Instruction: Is fatty acid hydroxylase-associated neurodegeneration inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fatty acid hydroxylase-associated neurodegeneration ? ### Response: These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ulcerative colitis ? ### Response: Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface of the rectum and colon, which make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by ulcerative colitis ? ### Response: Ulcerative colitis is most common in North America and Western Europe; however the prevalence is increasing in other regions. In North America, ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is estimated that more than 750,000 North Americans are affected by this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ulcerative colitis ? ### Response: A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis. Recent studies have identified variations in dozens of genes that may be linked to ulcerative colitis; however, the role of these variations is not completely understood. " "Below is an instruction from Human. Write a response. ### Instruction: Is ulcerative colitis inherited ? ### Response: The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ulcerative colitis ? ### Response: These resources address the diagnosis or management of ulcerative colitis: - American Society of Colon and Rectal Surgeons - Cedars-Sinai - Crohn's & Colitis Foundation of America: Colitis Diagnosis and Testing - Crohn's & Colitis Foundation of America: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary pancreatitis ? ### Response: Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary pancreatitis ? ### Response: Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary pancreatitis ? ### Response: Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas and transported to the small intestine, where it is cut (cleaved) into its working or active form called trypsin. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary pancreatitis inherited ? ### Response: When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the PRSS1 gene mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary pancreatitis ? ### Response: These resources address the diagnosis or management of hereditary pancreatitis: - Encyclopedia: Chronic Pancreatitis - Gene Review: Gene Review: PRSS1-Related Hereditary Pancreatitis - Gene Review: Gene Review: Pancreatitis Overview - Genetic Testing Re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha-1 antitrypsin deficiency ? ### Response: Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals. People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by alpha-1 antitrypsin deficiency ? ### Response: Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alpha-1 antitrypsin deficiency ? ### Response: Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin. " "Below is an instruction from Human. Write a response. ### Instruction: Is alpha-1 antitrypsin deficiency inherited ? ### Response: This condition is inherited in an autosomal codominant pattern. Codominance means that two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait. The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alpha-1 antitrypsin deficiency ? ### Response: These resources address the diagnosis or management of alpha-1 antitrypsin deficiency: - Alpha-1 Foundation: Testing for Alpha-1 - Cleveland Clinic Respiratory Institute - Gene Review: Gene Review: Alpha-1 Antitrypsin Deficiency - GeneFacts: Alpha-1 Ant " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 4 ? ### Response: Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 4 ? ### Response: Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spastic paraplegia type 4 ? ### Response: Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 4 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. The remaining cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 4 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 4: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 4 - Genetic Testing Registry: Spastic paraplegia 4, autosomal dominant - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marinesco-Sjgren syndrome ? ### Response: Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marinesco-Sjgren syndrome ? ### Response: Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Marinesco-Sjgren syndrome ? ### Response: Mutations in the SIL1 gene cause Marinesco-Sjgren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. " "Below is an instruction from Human. Write a response. ### Instruction: Is Marinesco-Sjgren syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Marinesco-Sjgren syndrome ? ### Response: These resources address the diagnosis or management of Marinesco-Sjgren syndrome: - Gene Review: Gene Review: Marinesco-Sjogren Syndrome - Genetic Testing Registry: Marinesco-Sjgren syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked adrenal hypoplasia congenita ? ### Response: X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked adrenal hypoplasia congenita ? ### Response: X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked adrenal hypoplasia congenita inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked adrenal hypoplasia congenita ? ### Response: These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prothrombin deficiency ? ### Response: Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prothrombin deficiency ? ### Response: Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to prothrombin deficiency ? ### Response: Mutations in the F2 gene cause prothrombin deficiency. The F2 gene provides instructions for making the prothrombin protein (also called coagulation factor II), which plays a critical role in the formation of blood clots in response to injury. Prothrombin is the precursor to thrombin, a protein that initiates a series of chemical reactions to form a blood clot. " "Below is an instruction from Human. Write a response. ### Instruction: Is prothrombin deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for prothrombin deficiency ? ### Response: These resources address the diagnosis or management of prothrombin deficiency: - Genetic Testing Registry: Prothrombin deficiency, congenital - MedlinePlus Encyclopedia: Factor II deficiency These resources from MedlinePlus offer information about the d " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type IV ? ### Response: Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals. The first signs and symptoms of MPS IV usually become apparent during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type IV ? ### Response: Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals. The first signs and symptoms of MPS IV usually become apparent during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucopolysaccharidosis type IV ? ### Response: Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucopolysaccharidosis type IV inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucopolysaccharidosis type IV ? ### Response: These resources address the diagnosis or management of mucopolysaccharidosis type IV: - Genetic Testing Registry: Morquio syndrome - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-B - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) otopalatodigital syndrome type 2 ? ### Response: Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) otopalatodigital syndrome type 2 ? ### Response: Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to otopalatodigital syndrome type 2 ? ### Response: Mutations in the FLNA gene cause otopalatodigital syndrome type 2. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is otopalatodigital syndrome type 2 inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for otopalatodigital syndrome type 2 ? ### Response: These resources address the diagnosis or management of otopalatodigital syndrome type 2: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type II These resources from MedlinePlus of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sialic acid storage disease ? ### Response: Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by sialic acid storage disease ? ### Response: Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sialic acid storage disease ? ### Response: Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. " "Below is an instruction from Human. Write a response. ### Instruction: Is sialic acid storage disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sialic acid storage disease ? ### Response: These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial dilated cardiomyopathy ? ### Response: Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial dilated cardiomyopathy ? ### Response: Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial dilated cardiomyopathy ? ### Response: Mutations in more than 30 genes have been found to cause familial dilated cardiomyopathy. These genes provide instructions for making proteins that are found in cardiac muscle cells called cardiomyocytes. Many of these proteins play important roles in the contraction of the cardiac muscle through their association with cell structures called sarcomeres. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial dilated cardiomyopathy inherited ? ### Response: Familial dilated cardiomyopathy has different inheritance patterns depending on the gene involved. In 80 to 90 percent of cases, familial dilated cardiomyopathy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial dilated cardiomyopathy ? ### Response: These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Revie " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? ### Response: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? ### Response: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? ### Response: RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth. " "Below is an instruction from Human. Write a response. ### Instruction: Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? ### Response: These resources address the diagnosis or management of RAMSVPS: - Calgary Retina Consultants: Retinal Arterial Macroaneurysm - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis - MedlinePlus Encyclopedia: Fluor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oral-facial-digital syndrome ? ### Response: Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by oral-facial-digital syndrome ? ### Response: Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to oral-facial-digital syndrome ? ### Response: Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I. " "Below is an instruction from Human. Write a response. ### Instruction: Is oral-facial-digital syndrome inherited ? ### Response: Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for oral-facial-digital syndrome ? ### Response: These resources address the diagnosis or management of oral-facial-digital syndrome: - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I - Genetic Testing Registry: Mohr syndrome - Genetic Testing Registry: Oral-facial-digital syndrome - Gen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? ### Response: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? ### Response: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? ### Response: Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital hemidysplasia with ichthyosiform erythroderma and limb defects inherited ? ### Response: This condition has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? ### Response: These resources address the diagnosis or management of CHILD syndrome: - Gene Review: Gene Review: NSDHL-Related Disorders - Genetic Testing Registry: Child syndrome These resources from MedlinePlus offer information about the diagnosis and management o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary hemorrhagic telangiectasia ? ### Response: Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hereditary hemorrhagic telangiectasia ? ### Response: The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary hemorrhagic telangiectasia ? ### Response: Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary hemorrhagic telangiectasia ? ### Response: These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia: - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2 - Genetic Testing Reg " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial membrane protein-associated neurodegeneration ? ### Response: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time. MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop other movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial membrane protein-associated neurodegeneration ? ### Response: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time. MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop other movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mitochondrial membrane protein-associated neurodegeneration ? ### Response: Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (lipid) molecules, a process known as lipid homeostasis. " "Below is an instruction from Human. Write a response. ### Instruction: Is mitochondrial membrane protein-associated neurodegeneration inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mitochondrial membrane protein-associated neurodegeneration ? ### Response: These resources address the diagnosis or management of mitochondrial membrane protein-associated neurodegeneration: - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration - Gene Review: Gene Review: Neurodegeneration with " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? ### Response: T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? ### Response: T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? ### Response: T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and the growth of fingernails and toenails. " "Below is an instruction from Human. Write a response. ### Instruction: Is T-cell immunodeficiency, congenital alopecia, and nail dystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? ### Response: These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail dystrophy: - Be The Match: What is a Bone Marrow Transplant? - Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia and nail dy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpers-Huttenlocher syndrome ? ### Response: Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpers-Huttenlocher syndrome ? ### Response: Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Alpers-Huttenlocher syndrome ? ### Response: Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alpers-Huttenlocher syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alpers-Huttenlocher syndrome ? ### Response: These resources address the diagnosis or management of Alpers-Huttenlocher syndrome: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Progressive sclerosing poliodystrophy - United Mitochondrial Disease Foundation: Diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked sideroblastic anemia and ataxia ? ### Response: X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked sideroblastic anemia and ataxia ? ### Response: X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked sideroblastic anemia and ataxia ? ### Response: Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked sideroblastic anemia and ataxia inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked sideroblastic anemia and ataxia ? ### Response: These resources address the diagnosis or management of X-linked sideroblastic anemia and ataxia: - Gene Review: Gene Review: X-Linked Sideroblastic Anemia and Ataxia - Genetic Testing Registry: Anemia sideroblastic and spinocerebellar ataxia - MedlinePlu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pulmonary arterial hypertension ? ### Response: Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pulmonary arterial hypertension ? ### Response: Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pulmonary arterial hypertension ? ### Response: Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: Is pulmonary arterial hypertension inherited ? ### Response: Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated with the disease, but most of the time a causative gene mutation has not been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pulmonary arterial hypertension ? ### Response: These resources address the diagnosis or management of pulmonary arterial hypertension: - Gene Review: Gene Review: Heritable Pulmonary Arterial Hypertension - Genetic Testing Registry: Primary pulmonary hypertension - Genetic Testing Registry: Primary p " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) systemic scleroderma ? ### Response: Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word ""scleroderma"" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) systemic scleroderma ? ### Response: Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word ""scleroderma"" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to systemic scleroderma ? ### Response: Researchers have identified variations in several genes that may influence the risk of developing systemic scleroderma. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). " "Below is an instruction from Human. Write a response. ### Instruction: Is systemic scleroderma inherited ? ### Response: Most cases of systemic scleroderma are sporadic, which means they occur in people with no history of the condition in their family. However, some people with systemic scleroderma have close relatives with other autoimmune disorders. A small percentage of all cases of systemic scleroderma have been reported to run in families; however, the condition does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for systemic scleroderma ? ### Response: These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer info " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Denys-Drash syndrome ? ### Response: Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Denys-Drash syndrome ? ### Response: Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Denys-Drash syndrome ? ### Response: Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Denys-Drash syndrome ? ### Response: Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Denys-Drash syndrome ? ### Response: These resources address the diagnosis or management of Denys-Drash syndrome: - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: Drash syndrome - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital insensitivity to pain ? ### Response: Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital insensitivity to pain ? ### Response: Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital insensitivity to pain ? ### Response: Mutations in the SCN9A gene cause congenital insensitivity to pain. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital insensitivity to pain inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital insensitivity to pain ? ### Response: These resources address the diagnosis or management of congenital insensitivity to pain: - Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and manageme " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? ### Response: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? ### Response: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. " "Below is an instruction from Human. Write a response. ### Instruction: Is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes inherited ? ### Response: This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? ### Response: These resources address the diagnosis or management of MELAS: - Gene Review: Gene Review: MELAS - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke - Medl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ? ### Response: TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. " "Below is an instruction from Human. Write a response. ### Instruction: Is TK2-related mitochondrial DNA depletion syndrome, myopathic form inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for TK2-related mitochondrial DNA depletion syndrome, myopathic form ? ### Response: These resources address the diagnosis or management of TK2-related mitochondrial DNA depletion syndrome, myopathic form: - Cincinnati Children's Hospital: Mitochondrial Diseases Program - Gene Review: Gene Review: TK2-Related Mitochondrial DNA Depletion S " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brooke-Spiegler syndrome ? ### Response: Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brooke-Spiegler syndrome ? ### Response: Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Brooke-Spiegler syndrome ? ### Response: Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is Brooke-Spiegler syndrome inherited ? ### Response: Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Brooke-Spiegler syndrome ? ### Response: These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) late-infantile neuronal ceroid lipofuscinosis ? ### Response: Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) late-infantile neuronal ceroid lipofuscinosis ? ### Response: Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: Is late-infantile neuronal ceroid lipofuscinosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for late-infantile neuronal ceroid lipofuscinosis ? ### Response: These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5 - Genetic Testing Registry: Cero " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia neuropathy spectrum ? ### Response: Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia neuropathy spectrum ? ### Response: Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ataxia neuropathy spectrum ? ### Response: Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene. The POLG gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). The C10orf2 gene provides instructions for making a protein called Twinkle. " "Below is an instruction from Human. Write a response. ### Instruction: Is ataxia neuropathy spectrum inherited ? ### Response: Ataxia neuropathy spectrum can have different inheritance patterns depending on the associated gene. Mutations in the POLG gene cause a form of the condition that is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ataxia neuropathy spectrum ? ### Response: These resources address the diagnosis or management of ataxia neuropathy spectrum: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - National Ataxia Foundation: Ge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pilomatricoma ? ### Response: Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pilomatricoma ? ### Response: Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pilomatricoma ? ### Response: Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-catenin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pilomatricoma ? ### Response: Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-catenin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pilomatricoma ? ### Response: These resources address the diagnosis or management of pilomatricoma: - Genetic Testing Registry: Pilomatrixoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dru " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tietz syndrome ? ### Response: Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tietz syndrome ? ### Response: Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Tietz syndrome ? ### Response: Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a two-protein unit (dimer). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Tietz syndrome ? ### Response: Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a two-protein unit (dimer). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tietz syndrome ? ### Response: These resources address the diagnosis or management of Tietz syndrome: - Genetic Testing Registry: Tietz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alexander disease ? ### Response: Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alexander disease ? ### Response: Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Alexander disease ? ### Response: Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alexander disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alexander disease ? ### Response: These resources address the diagnosis or management of Alexander disease: - Gene Review: Gene Review: Alexander Disease - Genetic Testing Registry: Alexander's disease - MedlinePlus Encyclopedia: Myelin These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Turner syndrome ? ### Response: Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Turner syndrome ? ### Response: Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Turner syndrome ? ### Response: Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. " "Below is an instruction from Human. Write a response. ### Instruction: Is Turner syndrome inherited ? ### Response: Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Turner syndrome ? ### Response: These resources address the diagnosis or management of Turner syndrome: - Genetic Testing Registry: Turner syndrome - MedlinePlus Encyclopedia: Ovarian Hypofunction - MedlinePlus Encyclopedia: Turner Syndrome These resources from MedlinePlus offer info " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) auriculo-condylar syndrome ? ### Response: Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears (""auriculo-"" refers to the ears). A hallmark of this condition is an ear abnormality called a ""question-mark ear,"" in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to auriculo-condylar syndrome ? ### Response: Auriculo-condylar syndrome can be caused by mutations in either the GNAI3 or PLCB4 gene. These genes provide instructions for making proteins that are involved in chemical signaling within cells. They help transmit information from outside the cell to inside the cell, which instructs the cell to grow, divide, or take on specialized functions. " "Below is an instruction from Human. Write a response. ### Instruction: Is auriculo-condylar syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for auriculo-condylar syndrome ? ### Response: These resources address the diagnosis or management of auriculo-condylar syndrome: - Genetic Testing Registry: Auriculocondylar syndrome 1 - Genetic Testing Registry: Auriculocondylar syndrome 2 - MedlinePlus Encyclopedia: Cleft Lip and Palate - Medline " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cold-induced sweating syndrome ? ### Response: Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cold-induced sweating syndrome ? ### Response: Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cold-induced sweating syndrome ? ### Response: About 90 percent of cases of cold-induced sweating syndrome and Crisponi syndrome result from mutations in the CRLF1 gene. These cases are designated as CISS1. The remaining 10 percent of cases are caused by mutations in the CLCF1 gene and are designated as CISS2. " "Below is an instruction from Human. Write a response. ### Instruction: Is cold-induced sweating syndrome inherited ? ### Response: Cold-induced sweating syndrome is inherited in anautosomal recessive pattern, which means both copies of the CRLF1 or CLCF1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cold-induced sweating syndrome ? ### Response: These resources address the diagnosis or management of cold-induced sweating syndrome: - Gene Review: Gene Review: Cold-Induced Sweating Syndrome including Crisponi Syndrome - Genetic Testing Registry: Cold-induced sweating syndrome 1 - Genetic Testing R " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chanarin-Dorfman syndrome ? ### Response: Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chanarin-Dorfman syndrome ? ### Response: Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Chanarin-Dorfman syndrome ? ### Response: Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Chanarin-Dorfman syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chanarin-Dorfman syndrome ? ### Response: These resources address the diagnosis or management of Chanarin-Dorfman syndrome: - Genetic Testing Registry: Triglyceride storage disease with ichthyosis - MedlinePlus Encyclopedia: Ichthyosis vulgaris These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial complex III deficiency ? ### Response: Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial complex III deficiency ? ### Response: Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mitochondrial complex III deficiency ? ### Response: Mitochondrial complex III deficiency can be caused by mutations in one of several genes. The proteins produced from these genes either are a part of or help assemble a group of proteins called complex III. The two most commonly mutated genes involved in mitochondrial complex III deficiency are MT-CYB and BCS1L. " "Below is an instruction from Human. Write a response. ### Instruction: Is mitochondrial complex III deficiency inherited ? ### Response: Mitochondrial complex III deficiency is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mitochondrial complex III deficiency ? ### Response: These resources address the diagnosis or management of mitochondrial complex III deficiency: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 - Genetic Testing R " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) malignant migrating partial seizures of infancy ? ### Response: Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) malignant migrating partial seizures of infancy ? ### Response: Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to malignant migrating partial seizures of infancy ? ### Response: The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition. The KCNT1 gene provides instructions for making a protein that forms potassium channels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to malignant migrating partial seizures of infancy ? ### Response: The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition. The KCNT1 gene provides instructions for making a protein that forms potassium channels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for malignant migrating partial seizures of infancy ? ### Response: These resources address the diagnosis or management of malignant migrating partial seizures of infancy: - Genetic Testing Registry: Early infantile epileptic encephalopathy 14 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer inform " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lujan syndrome ? ### Response: Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lujan syndrome ? ### Response: Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lujan syndrome ? ### Response: Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the MED12 protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lujan syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lujan syndrome ? ### Response: These resources address the diagnosis or management of Lujan syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: X-linked mental retardation with marfanoid habitus syndrome These resources from MedlinePlus offer inf " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) systemic lupus erythematosus ? ### Response: Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by systemic lupus erythematosus ? ### Response: For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to systemic lupus erythematosus ? ### Response: Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. " "Below is an instruction from Human. Write a response. ### Instruction: Is systemic lupus erythematosus inherited ? ### Response: SLE and other autoimmune disorders tend to run in families, but the inheritance pattern is usually unknown. People may inherit a gene variation that increases or decreases the risk of SLE, but in most cases do not inherit the condition itself. Not all people with SLE have a gene variation that increases the risk, and not all people with such a gene variation will develop the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for systemic lupus erythematosus ? ### Response: These resources address the diagnosis or management of systemic lupus erythematosus: - MedlinePlus Encyclopedia: Antinuclear Antibody Panel These resources from MedlinePlus offer information about the diagnosis and management of various health conditions " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SADDAN ? ### Response: SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SADDAN ? ### Response: SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to SADDAN ? ### Response: Mutations in the FGFR3 gene cause SADDAN. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A mutation in this gene may cause the FGFR3 protein to be overly active, which leads to the disturbances in bone growth that are characteristic of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is SADDAN inherited ? ### Response: SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. The few described cases of SADDAN have been caused by new mutations in the FGFR3 gene and occurred in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SADDAN ? ### Response: These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial cold autoinflammatory syndrome ? ### Response: Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial cold autoinflammatory syndrome ? ### Response: Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial cold autoinflammatory syndrome ? ### Response: Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial cold autoinflammatory syndrome ? ### Response: Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial cold autoinflammatory syndrome ? ### Response: These resources address the diagnosis or management of familial cold autoinflammatory syndrome: - Genetic Testing Registry: Familial cold autoinflammatory syndrome 2 - Genetic Testing Registry: Familial cold urticaria These resources from MedlinePlus of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hypothyroidism ? ### Response: Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hypothyroidism ? ### Response: Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital hypothyroidism ? ### Response: Congenital hypothyroidism can be caused by a variety of factors, only some of which are genetic. The most common cause worldwide is a shortage of iodine in the diet of the mother and the affected infant. Iodine is essential for the production of thyroid hormones. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital hypothyroidism inherited ? ### Response: Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital hypothyroidism ? ### Response: These resources address the diagnosis or management of congenital hypothyroidism: - Baby's First Test - Genetic Testing Registry: Congenital hypothyroidism - Genetic Testing Registry: Hypothyroidism, congenital, nongoitrous, 1 - MedlinePlus Encyclopedia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rubinstein-Taybi syndrome ? ### Response: Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rubinstein-Taybi syndrome ? ### Response: Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Rubinstein-Taybi syndrome ? ### Response: Mutations in the CREBBP gene are responsible for some cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: Is Rubinstein-Taybi syndrome inherited ? ### Response: This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rubinstein-Taybi syndrome ? ### Response: These resources address the diagnosis or management of Rubinstein-Taybi syndrome: - Gene Review: Gene Review: Rubinstein-Taybi Syndrome - Genetic Testing Registry: Rubinstein-Taybi syndrome - MedlinePlus Encyclopedia: Rubinstein-Taybi syndrome These re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) surfactant dysfunction ? ### Response: Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) surfactant dysfunction ? ### Response: Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to surfactant dysfunction ? ### Response: Surfactant dysfunction is caused by mutations in one of several genes, including SFTPB, SFTPC, and ABCA3. Each of these genes is involved in the production of surfactant. The production and release of surfactant is a complex process. The phospholipids and proteins that make up surfactant are packaged in cellular structures known as lamellar bodies. " "Below is an instruction from Human. Write a response. ### Instruction: Is surfactant dysfunction inherited ? ### Response: Surfactant dysfunction can have different inheritance patterns depending on its genetic cause. When caused by mutations in the SFTPB or ABCA3 gene, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for surfactant dysfunction ? ### Response: These resources address the diagnosis or management of surfactant dysfunction: - Children's Interstitial and Diffuse Lung Disease (chILD) Foundation: Surfactant Deficiency - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 1 - Gene " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyridoxal 5'-phosphate-dependent epilepsy ? ### Response: Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyridoxal 5'-phosphate-dependent epilepsy ? ### Response: Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. " "Below is an instruction from Human. Write a response. ### Instruction: Is pyridoxal 5'-phosphate-dependent epilepsy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pyridoxal 5'-phosphate-dependent epilepsy ? ### Response: These resources address the diagnosis or management of pyridoxal 5'-phosphate-dependent epilepsy: - Genetic Testing Registry: Pyridoxal 5'-phosphate-dependent epilepsy - MedlinePlus Encyclopedia: Lactic acidosis These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Andersen-Tawil syndrome ? ### Response: Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Andersen-Tawil syndrome ? ### Response: Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Andersen-Tawil syndrome ? ### Response: Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles used for movement (skeletal muscles) and cardiac muscle. " "Below is an instruction from Human. Write a response. ### Instruction: Is Andersen-Tawil syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Andersen-Tawil syndrome ? ### Response: These resources address the diagnosis or management of Andersen-Tawil syndrome: - Gene Review: Gene Review: Andersen-Tawil Syndrome - Genetic Testing Registry: Andersen Tawil syndrome These resources from MedlinePlus offer information about the diagnosi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Manitoba oculotrichoanal syndrome ? ### Response: Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Manitoba oculotrichoanal syndrome ? ### Response: Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although this region has the highest incidence of the condition, it has also been diagnosed in a few people from other parts of the world. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Manitoba oculotrichoanal syndrome ? ### Response: Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is Manitoba oculotrichoanal syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Manitoba oculotrichoanal syndrome ? ### Response: These resources address the diagnosis or management of Manitoba oculotrichoanal syndrome: - Gene Review: Gene Review: Manitoba Oculotrichoanal Syndrome - Genetic Testing Registry: Marles Greenberg Persaud syndrome - MedlinePlus Encyclopedia: Omphalocele " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated ectopia lentis ? ### Response: Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated ectopia lentis ? ### Response: Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isolated ectopia lentis ? ### Response: Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues, including the lenses of the eyes, which are held in position by these filaments. " "Below is an instruction from Human. Write a response. ### Instruction: Is isolated ectopia lentis inherited ? ### Response: When isolated ectopia lentis is caused by mutations in the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isolated ectopia lentis ? ### Response: These resources address the diagnosis or management of isolated ectopia lentis: - Gene Review: Gene Review: ADAMTSL4-Related Eye Disorders - Genetic Testing Registry: Ectopia lentis, isolated autosomal recessive - Genetic Testing Registry: Ectopia lentis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tuberous sclerosis complex ? ### Response: Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tuberous sclerosis complex ? ### Response: Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tuberous sclerosis complex ? ### Response: Mutations in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely work together to help regulate cell growth and size. " "Below is an instruction from Human. Write a response. ### Instruction: Is tuberous sclerosis complex inherited ? ### Response: Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tuberous sclerosis complex ? ### Response: These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous S " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) factor V Leiden thrombophilia ? ### Response: Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by factor V Leiden thrombophilia ? ### Response: Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to factor V Leiden thrombophilia ? ### Response: A particular mutation in the F5 gene causes factor V Leiden thrombophilia. The F5 gene provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. " "Below is an instruction from Human. Write a response. ### Instruction: Is factor V Leiden thrombophilia inherited ? ### Response: The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for factor V Leiden thrombophilia ? ### Response: These resources address the diagnosis or management of factor V Leiden thrombophilia: - American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing - Gene Review: Gene Review: Factor V Leiden Thrombophilia - GeneFacts: Fa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chronic granulomatous disease ? ### Response: Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chronic granulomatous disease ? ### Response: Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to chronic granulomatous disease ? ### Response: Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. " "Below is an instruction from Human. Write a response. ### Instruction: Is chronic granulomatous disease inherited ? ### Response: When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for chronic granulomatous disease ? ### Response: These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous diseas " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteoporosis-pseudoglioma syndrome ? ### Response: Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteoporosis-pseudoglioma syndrome ? ### Response: Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to osteoporosis-pseudoglioma syndrome ? ### Response: Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina. " "Below is an instruction from Human. Write a response. ### Instruction: Is osteoporosis-pseudoglioma syndrome inherited ? ### Response: Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for osteoporosis-pseudoglioma syndrome ? ### Response: These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 15q24 microdeletion ? ### Response: 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24. 15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 15q24 microdeletion ? ### Response: 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24. 15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 15q24 microdeletion ? ### Response: People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1. " "Below is an instruction from Human. Write a response. ### Instruction: Is 15q24 microdeletion inherited ? ### Response: The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 15q24 microdeletion ? ### Response: These resources address the diagnosis or management of 15q24 microdeletion: - Gene Review: Gene Review: 15q24 Microdeletion - Genetic Testing Registry: 15q24 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and ma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) branchio-oculo-facial syndrome ? ### Response: Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) branchio-oculo-facial syndrome ? ### Response: Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to branchio-oculo-facial syndrome ? ### Response: Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is branchio-oculo-facial syndrome inherited ? ### Response: Branchio-oculo-facial syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for branchio-oculo-facial syndrome ? ### Response: These resources address the diagnosis or management of branchio-oculo-facial syndrome: - Gene Review: Gene Review: Branchiooculofacial Syndrome - Genetic Testing Registry: Branchiooculofacial syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate Th " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pallister-Hall syndrome ? ### Response: Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pallister-Hall syndrome ? ### Response: Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pallister-Hall syndrome ? ### Response: Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pallister-Hall syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pallister-Hall syndrome ? ### Response: These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing Registry: Pallister-Hall syndrome - MedlinePlus Encyclopedia: Epiglottis (Image) - MedlinePlus Encyclop " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital fibrosis of the extraocular muscles ? ### Response: Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital fibrosis of the extraocular muscles ? ### Response: CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital fibrosis of the extraocular muscles ? ### Response: CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. This gene provides instructions for making a protein called a kinesin, which is essential for the transport of materials within cells. Researchers believe that this protein plays an important role in the normal development and function of nerves in the head and face. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital fibrosis of the extraocular muscles inherited ? ### Response: The different types of congenital fibrosis of the extraocular muscles have different patterns of inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital fibrosis of the extraocular muscles ? ### Response: These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles: - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1 - " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by X-linked dystonia-parkinsonism ? ### Response: X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked dystonia-parkinsonism ? ### Response: Mutations in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked dystonia-parkinsonism inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked dystonia-parkinsonism ? ### Response: These resources address the diagnosis or management of X-linked dystonia-parkinsonism: - Gene Review: Gene Review: X-Linked Dystonia-Parkinsonism Syndrome - Genetic Testing Registry: Dystonia 3, torsion, X-linked These resources from MedlinePlus offer i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteopetrosis ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by osteopetrosis ? ### Response: Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people. Other forms of osteopetrosis are very rare. Only a few cases of intermediate autosomal osteopetrosis and OL-EDA-ID have been reported in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to osteopetrosis ? ### Response: Mutations in at least nine genes cause the various types of osteopetrosis. Mutations in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. " "Below is an instruction from Human. Write a response. ### Instruction: Is osteopetrosis inherited ? ### Response: Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for osteopetrosis ? ### Response: These resources address the diagnosis or management of osteopetrosis: - Gene Review: Gene Review: CLCN7-Related Osteopetrosis - Genetic Testing Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema - Genetic Tes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 21-hydroxylase deficiency ? ### Response: 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by 21-hydroxylase deficiency ? ### Response: The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 21-hydroxylase deficiency ? ### Response: Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. " "Below is an instruction from Human. Write a response. ### Instruction: Is 21-hydroxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 21-hydroxylase deficiency ? ### Response: These resources address the diagnosis or management of 21-hydroxylase deficiency: - Baby's First Test - CARES Foundation: Treatment - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Genetic Testing Registry: 21-hydrox " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple system atrophy ? ### Response: Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple system atrophy ? ### Response: Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple system atrophy ? ### Response: Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in several genes have been studied as possible risk factors for multiple system atrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple system atrophy ? ### Response: Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in several genes have been studied as possible risk factors for multiple system atrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple system atrophy ? ### Response: These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and manageme " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) complement component 2 deficiency ? ### Response: Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) complement component 2 deficiency ? ### Response: Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to complement component 2 deficiency ? ### Response: Complement component 2 deficiency is caused by mutations in the C2 gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders, trigger inflammation, and remove debris from cells and tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is complement component 2 deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for complement component 2 deficiency ? ### Response: These resources address the diagnosis or management of complement component 2 deficiency: - Genetic Testing Registry: Complement component 2 deficiency - MedlinePlus Encyclopedia: Complement - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Prima " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Darier disease ? ### Response: Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Darier disease ? ### Response: Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Darier disease ? ### Response: Mutations in the ATP2A2 gene cause Darier disease. The ATP2A2 gene provides instructions for producing an enzyme abbreviated as SERCA2. This enzyme acts as a pump that helps control the level of positively charged calcium atoms (calcium ions) inside cells, particularly in the endoplasmic reticulum and the sarcoplasmic reticulum. " "Below is an instruction from Human. Write a response. ### Instruction: Is Darier disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Darier disease ? ### Response: These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary myopathy with early respiratory failure ? ### Response: Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary myopathy with early respiratory failure ? ### Response: Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary myopathy with early respiratory failure ? ### Response: HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary myopathy with early respiratory failure ? ### Response: HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary myopathy with early respiratory failure ? ### Response: These resources address the diagnosis or management of HMERF: - Gene Review: Gene Review: Hereditary Myopathy with Early Respiratory Failure (HMERF) - Genetic Testing Registry: Hereditary myopathy with early respiratory failure - National Heart, Lung, an " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cyclic vomiting syndrome ? ### Response: Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age. The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 days. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by cyclic vomiting syndrome ? ### Response: The exact prevalence of cyclic vomiting syndrome is unknown; estimates range from 4 to 2,000 per 100,000 children. The condition is diagnosed less frequently in adults, although recent studies suggest that the condition may begin in adulthood as commonly as it begins in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cyclic vomiting syndrome ? ### Response: Although the causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. " "Below is an instruction from Human. Write a response. ### Instruction: Is cyclic vomiting syndrome inherited ? ### Response: In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family. However, many affected individuals have a family history of related conditions, such as migraines, irritable bowel syndrome, or depression, in their mothers and other maternal relatives. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cyclic vomiting syndrome ? ### Response: These resources address the diagnosis or management of cyclic vomiting syndrome: - Children's Hospital of Wisconsin - Genetic Testing Registry: Cyclical vomiting syndrome These resources from MedlinePlus offer information about the diagnosis and managem " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital dyserythropoietic anemia ? ### Response: Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital dyserythropoietic anemia ? ### Response: Several hundred cases of CDA have been reported worldwide. CDA type II is the most common form of the disorder, with more than 300 reported cases. CDA type III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital dyserythropoietic anemia ? ### Response: CDA type I usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations in at least one other gene can also cause this form of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital dyserythropoietic anemia inherited ? ### Response: The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital dyserythropoietic anemia ? ### Response: These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MyD88 deficiency ? ### Response: MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MyD88 deficiency ? ### Response: MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to MyD88 deficiency ? ### Response: MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiation of inflammation to fight infection. " "Below is an instruction from Human. Write a response. ### Instruction: Is MyD88 deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MyD88 deficiency ? ### Response: These resources address the diagnosis or management of MyD88 deficiency: - Genetic Testing Registry: Myd88 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) metachromatic leukodystrophy ? ### Response: Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by metachromatic leukodystrophy ? ### Response: Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation, and 1 in 8,000 among Arab groups in Israel. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to metachromatic leukodystrophy ? ### Response: Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. " "Below is an instruction from Human. Write a response. ### Instruction: Is metachromatic leukodystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for metachromatic leukodystrophy ? ### Response: These resources address the diagnosis or management of metachromatic leukodystrophy: - Gene Review: Gene Review: Arylsulfatase A Deficiency - Genetic Testing Registry: Metachromatic leukodystrophy - Genetic Testing Registry: Sphingolipid activator protei " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kleefstra syndrome ? ### Response: Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kleefstra syndrome ? ### Response: Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kleefstra syndrome ? ### Response: Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kleefstra syndrome inherited ? ### Response: The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kleefstra syndrome ? ### Response: These resources address the diagnosis or management of Kleefstra syndrome: - Gene Review: Gene Review: Kleefstra Syndrome - Genetic Testing Registry: Chromosome 9q deletion syndrome These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weill-Marchesani syndrome ? ### Response: Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weill-Marchesani syndrome ? ### Response: Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Weill-Marchesani syndrome ? ### Response: Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. " "Below is an instruction from Human. Write a response. ### Instruction: Is Weill-Marchesani syndrome inherited ? ### Response: Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Weill-Marchesani syndrome ? ### Response: These resources address the diagnosis or management of Weill-Marchesani syndrome: - Gene Review: Gene Review: Weill-Marchesani Syndrome - Genetic Testing Registry: Weill-Marchesani syndrome - Genetic Testing Registry: Weill-Marchesani syndrome 1 - Genet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypochondroplasia ? ### Response: Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypochondroplasia ? ### Response: Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypochondroplasia ? ### Response: About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypochondroplasia inherited ? ### Response: Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypochondroplasia ? ### Response: These resources address the diagnosis or management of hypochondroplasia: - Gene Review: Gene Review: Hypochondroplasia - Genetic Testing Registry: Hypochondroplasia - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome ? ### Response: Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Noonan syndrome ? ### Response: Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Noonan syndrome ? ### Response: Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome ? ### Response: These resources address the diagnosis or management of Noonan syndrome: - Gene Review: Gene Review: Noonan Syndrome - Genetic Testing Registry: Noonan syndrome - Genetic Testing Registry: Noonan syndrome 1 - Genetic Testing Registry: Noonan syndrome 2 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cleidocranial dysplasia ? ### Response: Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cleidocranial dysplasia ? ### Response: Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cleidocranial dysplasia ? ### Response: The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is cleidocranial dysplasia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cleidocranial dysplasia ? ### Response: These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resource " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fragile X-associated primary ovarian insufficiency ? ### Response: Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fragile X-associated primary ovarian insufficiency ? ### Response: Mutations in the FMR1 gene increase a woman's risk of developing FXPOI. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. This protein plays a role in the functioning of nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is fragile X-associated primary ovarian insufficiency inherited ? ### Response: An increased risk of developing FXPOI is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, which is one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXPOI. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fragile X-associated primary ovarian insufficiency ? ### Response: These resources address the diagnosis or management of FXPOI: - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Premature ovarian failure 1 These resources from MedlinePlus offer information about the diagnosis and managemen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) critical congenital heart disease ? ### Response: Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by critical congenital heart disease ? ### Response: Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to critical congenital heart disease ? ### Response: In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is critical congenital heart disease inherited ? ### Response: Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for critical congenital heart disease ? ### Response: These resources address the diagnosis or management of critical congenital heart disease: - Baby's First Test: Critical Congenital Heart Disease - Boston Children's Hospital - Centers for Disease Control and Prevention: Screening for Critical Congenital " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type VII ? ### Response: Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type VII ? ### Response: Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type VII ? ### Response: Mutations in the PFKM gene cause GSDVII. This gene provides instructions for making one piece (the PFKM subunit) of an enzyme called phosphofructokinase, which plays a role in the breakdown of glycogen. The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type VII inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type VII ? ### Response: These resources address the diagnosis or management of glycogen storage disease type VII: - Genetic Testing Registry: Glycogen storage disease, type VII - The Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type VII ? ### Response: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type VII ? ### Response: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucopolysaccharidosis type VII ? ### Response: Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucopolysaccharidosis type VII inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucopolysaccharidosis type VII ? ### Response: These resources address the diagnosis or management of mucopolysaccharidosis type VII: - Genetic Testing Registry: Mucopolysaccharidosis type VII - National MPS Society: A Guide to Understanding MPS VII These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) task-specific focal dystonia ? ### Response: Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) task-specific focal dystonia ? ### Response: Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to task-specific focal dystonia ? ### Response: The causes of task-specific focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the onset of symptoms in people who are at risk. " "Below is an instruction from Human. Write a response. ### Instruction: Is task-specific focal dystonia inherited ? ### Response: Most cases of task-specific focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history of focal dystonia. (For example, writer's cramp and musician's dystonia have been reported to occur in the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for task-specific focal dystonia ? ### Response: These resources address the diagnosis or management of task-specific focal dystonia: - Dystonia Medical Research Foundation: How Is Dystonia Diagnosed? - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Dystonia Overview - Ge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carnitine palmitoyltransferase I deficiency ? ### Response: Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carnitine palmitoyltransferase I deficiency ? ### Response: Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to carnitine palmitoyltransferase I deficiency ? ### Response: Mutations in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. Carnitine palmitoyltransferase 1A is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is carnitine palmitoyltransferase I deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for carnitine palmitoyltransferase I deficiency ? ### Response: These resources address the diagnosis or management of CPT I deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) protein C deficiency ? ### Response: Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) protein C deficiency ? ### Response: Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to protein C deficiency ? ### Response: Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: Is protein C deficiency inherited ? ### Response: Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for protein C deficiency ? ### Response: These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - Medline " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked chondrodysplasia punctata 1 ? ### Response: X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked chondrodysplasia punctata 1 ? ### Response: X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical pathway involving vitamin K. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked chondrodysplasia punctata 1 inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the ARSE gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked chondrodysplasia punctata 1 ? ### Response: These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1: - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) warfarin resistance ? ### Response: Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to warfarin resistance ? ### Response: Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. " "Below is an instruction from Human. Write a response. ### Instruction: Is warfarin resistance inherited ? ### Response: The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for warfarin resistance ? ### Response: These resources address the diagnosis or management of warfarin resistance: - American Society of Hematology: Antithrombotic Therapy - MedlinePlus Drugs & Supplements: Warfarin - PharmGKB These resources from MedlinePlus offer information about the dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Feingold syndrome ? ### Response: Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Feingold syndrome ? ### Response: Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Feingold syndrome ? ### Response: Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Feingold syndrome ? ### Response: Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Feingold syndrome ? ### Response: These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodena " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypercholesterolemia ? ### Response: Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hypercholesterolemia ? ### Response: More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypercholesterolemia ? ### Response: Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia. High blood cholesterol levels typically result from a combination of genetic and environmental risk factors. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypercholesterolemia inherited ? ### Response: Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypercholesterolemia ? ### Response: These resources address the diagnosis or management of hypercholesterolemia: - Gene Review: Gene Review: Familial Hypercholesterolemia - GeneFacts: Familial Hypercholesterolemia: Diagnosis - GeneFacts: Familial Hypercholesterolemia: Management - Genetic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type III ? ### Response: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type III ? ### Response: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucopolysaccharidosis type III ? ### Response: Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucopolysaccharidosis type III inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucopolysaccharidosis type III ? ### Response: These resources address the diagnosis or management of mucopolysaccharidosis type III: - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B - Genetic Testing Registry: Mucopolysaccharid " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GLUT1 deficiency syndrome ? ### Response: GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by GLUT1 deficiency syndrome ? ### Response: GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GLUT1 deficiency syndrome ? ### Response: GLUT1 deficiency syndrome is caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel. " "Below is an instruction from Human. Write a response. ### Instruction: Is GLUT1 deficiency syndrome inherited ? ### Response: This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GLUT1 deficiency syndrome ? ### Response: These resources address the diagnosis or management of GLUT1 deficiency syndrome: - G1D Registry - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome - The " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Opitz G/BBB syndrome ? ### Response: Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. ""G/BBB"" represents the first letters of the last names of the families first diagnosed with this disorder and ""Opitz"" is the last name of the doctor who first described the signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Opitz G/BBB syndrome ? ### Response: X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 males, although it is likely that this condition is underdiagnosed. The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger condition known as 22q11. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Opitz G/BBB syndrome ? ### Response: X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). " "Below is an instruction from Human. Write a response. ### Instruction: Is Opitz G/BBB syndrome inherited ? ### Response: When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Opitz G/BBB syndrome ? ### Response: These resources address the diagnosis or management of Opitz G/BBB syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Gene Review: Gene Review: X-Linked Opitz G/BBB Syndrome - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stickler syndrome ? ### Response: Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stickler syndrome ? ### Response: Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Stickler syndrome ? ### Response: Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Stickler syndrome inherited ? ### Response: Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stickler syndrome ? ### Response: These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis III alpha/beta ? ### Response: Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis III alpha/beta ? ### Response: Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucolipidosis III alpha/beta ? ### Response: Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucolipidosis III alpha/beta inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucolipidosis III alpha/beta ? ### Response: These resources address the diagnosis or management of mucolipidosis III alpha/beta: - Gene Review: Gene Review: Mucolipidosis III Alpha/Beta - Genetic Testing Registry: Pseudo-Hurler polydystrophy - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hashimoto thyroiditis ? ### Response: Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Hashimoto thyroiditis ? ### Response: Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Hashimoto thyroiditis ? ### Response: Hashimoto thyroiditis is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Hashimoto thyroiditis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hashimoto thyroiditis inherited ? ### Response: The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hashimoto thyroiditis ? ### Response: These resources address the diagnosis or management of Hashimoto thyroiditis: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Hashimoto thyroiditis - National Institute of Diabetes and Digestive and Kidney Diseases: Thy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cornelia de Lange syndrome ? ### Response: Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Cornelia de Lange syndrome ? ### Response: Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cornelia de Lange syndrome ? ### Response: Cornelia de Lange syndrome can result from mutations in at least five genes: NIPBL, SMC1A, HDAC8, RAD21, and SMC3. Mutations in the NIPBL gene have been identified in more than half of all people with this condition; mutations in the other genes are much less common. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cornelia de Lange syndrome inherited ? ### Response: When Cornelia de Lange syndrome is caused by mutations in the NIPBL, RAD21, or SMC3 gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cornelia de Lange syndrome ? ### Response: These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? ### Response: 2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly. Organic acid disorders lead to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by 2-methylbutyryl-CoA dehydrogenase deficiency ? ### Response: 2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder; its actual incidence is unknown. This disorder is more common, however, among Hmong populations in southeast Asia and in Hmong Americans. 2-methylbutyryl-CoA dehydrogenase deficiency occurs in 1 in 250 to 1 in 500 people of Hmong ancestry. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ? ### Response: Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: Is 2-methylbutyryl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 2-methylbutyryl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of 2-methylbutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 2-methylbutyryl-CoA dehydrogenase These resources from MedlinePlus offer information about " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kearns-Sayre syndrome ? ### Response: Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kearns-Sayre syndrome ? ### Response: Kearns-Sayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). " "Below is an instruction from Human. Write a response. ### Instruction: Is Kearns-Sayre syndrome inherited ? ### Response: This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kearns-Sayre syndrome ? ### Response: These resources address the diagnosis or management of Kearns-Sayre syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Kearns Sayre syndrome These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) megalencephaly-capillary malformation syndrome ? ### Response: Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) megalencephaly-capillary malformation syndrome ? ### Response: Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to megalencephaly-capillary malformation syndrome ? ### Response: MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is megalencephaly-capillary malformation syndrome inherited ? ### Response: MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for megalencephaly-capillary malformation syndrome ? ### Response: These resources address the diagnosis or management of megalencephaly-capillary malformation syndrome: - Contact a Family - Gene Review: Gene Review: PIK3CA-Related Segmental Overgrowth - Genetic Testing Registry: Megalencephaly cutis marmorata telangiec " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lissencephaly with cerebellar hypoplasia ? ### Response: Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lissencephaly with cerebellar hypoplasia ? ### Response: Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lissencephaly with cerebellar hypoplasia ? ### Response: LCH can be caused by mutations in the RELN or TUBA1A gene. The RELN gene provides instructions for making a protein called reelin. In the developing brain, reelin turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. " "Below is an instruction from Human. Write a response. ### Instruction: Is lissencephaly with cerebellar hypoplasia inherited ? ### Response: When LCH is caused by mutations in the RELN gene, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lissencephaly with cerebellar hypoplasia ? ### Response: These resources address the diagnosis or management of lissencephaly with cerebellar hypoplasia: - Genetic Testing Registry: Lissencephaly 2 - Genetic Testing Registry: Lissencephaly 3 These resources from MedlinePlus offer information about the diagnos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smith-Lemli-Opitz syndrome ? ### Response: Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Smith-Lemli-Opitz syndrome ? ### Response: Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in whites of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations. " "Below is an instruction from Human. Write a response. ### Instruction: Is Smith-Lemli-Opitz syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Smith-Lemli-Opitz syndrome ? ### Response: These resources address the diagnosis or management of Smith-Lemli-Opitz syndrome: - Gene Review: Gene Review: Smith-Lemli-Opitz Syndrome - Genetic Testing Registry: Smith-Lemli-Opitz syndrome These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) monilethrix ? ### Response: Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) monilethrix ? ### Response: Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to monilethrix ? ### Response: Monilethrix is caused by mutations in one of several genes. Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. These genes provide instructions for making proteins that give structure and strength to strands of hair. " "Below is an instruction from Human. Write a response. ### Instruction: Is monilethrix inherited ? ### Response: Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for monilethrix ? ### Response: These resources address the diagnosis or management of monilethrix: - Genetic Testing Registry: Beaded hair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bloom syndrome ? ### Response: Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bloom syndrome ? ### Response: Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bloom syndrome ? ### Response: Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bloom syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bloom syndrome ? ### Response: These resources address the diagnosis or management of Bloom syndrome: - Gene Review: Gene Review: Bloom's Syndrome - Genetic Testing Registry: Bloom syndrome - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myostatin-related muscle hypertrophy ? ### Response: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myostatin-related muscle hypertrophy ? ### Response: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myostatin-related muscle hypertrophy ? ### Response: Mutations in the MSTN gene cause myostatin-related muscle hypertrophy. The MSTN gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow too large. " "Below is an instruction from Human. Write a response. ### Instruction: Is myostatin-related muscle hypertrophy inherited ? ### Response: Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the MSTN gene in each cell (heterozygotes) also have increased muscle bulk, but to a lesser degree. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myostatin-related muscle hypertrophy ? ### Response: These resources address the diagnosis or management of myostatin-related muscle hypertrophy: - Gene Review: Gene Review: Myostatin-Related Muscle Hypertrophy - Genetic Testing Registry: Myostatin-related muscle hypertrophy These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant hyper-IgE syndrome ? ### Response: Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant hyper-IgE syndrome ? ### Response: Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant hyper-IgE syndrome ? ### Response: Mutations in the STAT3 gene cause most cases of AD-HIES. This gene provides instructions for making a protein that plays an important role in several body systems. To carry out its roles, the STAT3 protein attaches to DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal dominant hyper-IgE syndrome inherited ? ### Response: AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal dominant hyper-IgE syndrome ? ### Response: These resources address the diagnosis or management of autosomal dominant hyper-IgE syndrome: - Gene Review: Gene Review: Autosomal Dominant Hyper IgE Syndrome - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperim " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cohen syndrome ? ### Response: Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cohen syndrome ? ### Response: Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cohen syndrome ? ### Response: Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells from producing a functional VPS13B protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cohen syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cohen syndrome ? ### Response: These resources address the diagnosis or management of Cohen syndrome: - Gene Review: Gene Review: Cohen Syndrome - Genetic Testing Registry: Cohen syndrome - MedlinePlus Encyclopedia: Hypotonia These resources from MedlinePlus offer information about " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leber hereditary optic neuropathy ? ### Response: Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leber hereditary optic neuropathy ? ### Response: Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Leber hereditary optic neuropathy ? ### Response: Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is Leber hereditary optic neuropathy inherited ? ### Response: LHON has a mitochondrial pattern of inheritance, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leber hereditary optic neuropathy ? ### Response: These resources address the diagnosis or management of Leber hereditary optic neuropathy: - Gene Review: Gene Review: Leber Hereditary Optic Neuropathy - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Leber's optic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nemaline myopathy ? ### Response: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nemaline myopathy ? ### Response: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nemaline myopathy ? ### Response: Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). " "Below is an instruction from Human. Write a response. ### Instruction: Is nemaline myopathy inherited ? ### Response: Nemaline myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nemaline myopathy ? ### Response: These resources address the diagnosis or management of nemaline myopathy: - Gene Review: Gene Review: Nemaline Myopathy - Genetic Testing Registry: Nemaline myopathy - Genetic Testing Registry: Nemaline myopathy 1 - Genetic Testing Registry: Nemaline my " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dubin-Johnson syndrome ? ### Response: Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood, although a few individuals have been diagnosed soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Dubin-Johnson syndrome ? ### Response: Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, it is more common among Iranian and Moroccan Jews living in Israel. Studies suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. Additionally, several people in the Japanese population have been diagnosed with Dubin-Johnson syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Dubin-Johnson syndrome ? ### Response: Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. The ABCC2 gene provides instructions for making a protein called multidrug resistance protein 2 (MRP2). This protein acts as a pump to transport substances out of the liver, kidneys, intestine, or placenta so they can be excreted from the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dubin-Johnson syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dubin-Johnson syndrome ? ### Response: These resources address the diagnosis or management of Dubin-Johnson syndrome: - Genetic Testing Registry: Dubin-Johnson syndrome - MedlinePlus Encyclopedia: Bilirubin - MedlinePlus Encyclopedia: Dubin-Johnson syndrome These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 46,XX testicular disorder of sex development ? ### Response: 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 46,XX testicular disorder of sex development ? ### Response: 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 46,XX testicular disorder of sex development ? ### Response: People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY). " "Below is an instruction from Human. Write a response. ### Instruction: Is 46,XX testicular disorder of sex development inherited ? ### Response: SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass on the disorder because they are infertile. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 46,XX testicular disorder of sex development ? ### Response: These resources address the diagnosis or management of 46,XX testicular disorder of sex development: - Gene Review: Gene Review: Nonsyndromic 46,XX Testicular Disorders of Sex Development - Genetic Testing Registry: 46,XX sex reversal, type 1 - Genetic T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) moyamoya disease ? ### Response: Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by moyamoya disease ? ### Response: Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to moyamoya disease ? ### Response: The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition. Other genes that have not been identified may be involved in moyamoya disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is moyamoya disease inherited ? ### Response: Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for moyamoya disease ? ### Response: These resources address the diagnosis or management of moyamoya disease: - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease? - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease - Genetic T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) vitelliform macular dystrophy ? ### Response: Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) vitelliform macular dystrophy ? ### Response: Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. " "Below is an instruction from Human. Write a response. ### Instruction: Is vitelliform macular dystrophy inherited ? ### Response: Best disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. The inheritance pattern of adult-onset vitelliform macular dystrophy is uncertain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for vitelliform macular dystrophy ? ### Response: These resources address the diagnosis or management of vitelliform macular dystrophy: - Gene Review: Gene Review: Best Vitelliform Macular Dystrophy - Genetic Testing Registry: Macular dystrophy, vitelliform, adult-onset - Genetic Testing Registry: Vitel " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) methylmalonic acidemia with homocystinuria ? ### Response: Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by methylmalonic acidemia with homocystinuria ? ### Response: The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations. These studies estimate the condition occurs in 1 in 100,000 people in New York and 1 in 60,000 people in California. " "Below is an instruction from Human. Write a response. ### Instruction: Is methylmalonic acidemia with homocystinuria inherited ? ### Response: Methylmalonic acidemia with homocystinuria is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for methylmalonic acidemia with homocystinuria ? ### Response: These resources address the diagnosis or management of methylmalonic acidemia with homocystinuria: - Baby's First Test: Methylmalonic Acidemia with Homocystinuria - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Genetic Testi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2q37 deletion syndrome ? ### Response: 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2q37 deletion syndrome ? ### Response: 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 2q37 deletion syndrome ? ### Response: 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is 2q37 deletion syndrome inherited ? ### Response: Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 2q37 deletion syndrome ? ### Response: These resources address the diagnosis or management of 2q37 deletion syndrome: - Gene Review: Gene Review: 2q37 Microdeletion Syndrome - Genetic Testing Registry: Brachydactyly-Mental Retardation syndrome These resources from MedlinePlus offer informati " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital mirror movement disorder ? ### Response: Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital mirror movement disorder ? ### Response: Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital mirror movement disorder ? ### Response: Congenital mirror movement disorder can be caused by mutations in the DCC or RAD51 gene; mutations in these genes account for a total of about 35 percent of cases. Mutations in other genes that have not been identified likely account for other cases of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital mirror movement disorder inherited ? ### Response: In most cases, including those caused by mutations in the DCC or RAD51 gene, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the altered gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital mirror movement disorder ? ### Response: These resources address the diagnosis or management of congenital mirror movement disorder: - Gene Review: Gene Review: Congenital Mirror Movements - Genetic Testing Registry: Mirror movements 2 - Genetic Testing Registry: Mirror movements, congenital - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duane-radial ray syndrome ? ### Response: Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duane-radial ray syndrome ? ### Response: Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Duane-radial ray syndrome ? ### Response: Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Duane-radial ray syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SALL4 gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Duane-radial ray syndrome ? ### Response: These resources address the diagnosis or management of Duane-radial ray syndrome: - Gene Review: Gene Review: SALL4-Related Disorders - Genetic Testing Registry: Duane-radial ray syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prion disease ? ### Response: Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by prion disease ? ### Response: These disorders are very rare. Although the exact prevalence of prion disease is unknown, studies suggest that this group of conditions affects about one person per million worldwide each year. Approximately 350 new cases are reported annually in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: Is prion disease inherited ? ### Response: Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for prion disease ? ### Response: These resources address the diagnosis or management of prion disease: - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care - Gene Review: Gene Review: Genetic Prion Diseases - Genetic Testing Registry: Genetic prion diseases - MedlinePlu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked myotubular myopathy ? ### Response: X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked myotubular myopathy ? ### Response: X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked myotubular myopathy inherited ? ### Response: X-linked myotubular myopathy is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked myotubular myopathy ? ### Response: These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperphosphatemic familial tumoral calcinosis ? ### Response: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperphosphatemic familial tumoral calcinosis ? ### Response: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperphosphatemic familial tumoral calcinosis ? ### Response: Mutations in the FGF23, GALNT3, or KL gene cause HFTC. The proteins produced from these genes are all involved in the regulation of phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. " "Below is an instruction from Human. Write a response. ### Instruction: Is hyperphosphatemic familial tumoral calcinosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hyperphosphatemic familial tumoral calcinosis ? ### Response: These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic These resources from MedlinePlus offer information about the diagnosis and m " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) frontometaphyseal dysplasia ? ### Response: Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) frontometaphyseal dysplasia ? ### Response: Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to frontometaphyseal dysplasia ? ### Response: Mutations in the FLNA gene cause frontometaphyseal dysplasia. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is frontometaphyseal dysplasia inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for frontometaphyseal dysplasia ? ### Response: These resources address the diagnosis or management of frontometaphyseal dysplasia: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Frontometaphyseal dysplasia These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mabry syndrome ? ### Response: Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mabry syndrome ? ### Response: Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mabry syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mabry syndrome ? ### Response: These resources address the diagnosis or management of Mabry syndrome: - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 1 - Genetic Testing Regis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) harlequin ichthyosis ? ### Response: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) harlequin ichthyosis ? ### Response: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to harlequin ichthyosis ? ### Response: Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). " "Below is an instruction from Human. Write a response. ### Instruction: Is harlequin ichthyosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for harlequin ichthyosis ? ### Response: These resources address the diagnosis or management of harlequin ichthyosis: - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4B These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) boomerang dysplasia ? ### Response: Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) boomerang dysplasia ? ### Response: Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to boomerang dysplasia ? ### Response: Mutations in the FLNB gene cause boomerang dysplasia. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is boomerang dysplasia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for boomerang dysplasia ? ### Response: These resources address the diagnosis or management of boomerang dysplasia: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Boomerang dysplasia These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by dihydrolipoamide dehydrogenase deficiency ? ### Response: Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the condition is likely rare. " "Below is an instruction from Human. Write a response. ### Instruction: Is dihydrolipoamide dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dihydrolipoamide dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of dihydrolipoamide dehydrogenase deficiency: - Gene Review: Gene Review: Dihydrolipoamide Dehydrogenase Deficiency - Genetic Testing Registry: Maple syrup urine disease, type 3 These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal muscular atrophy ? ### Response: Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal muscular atrophy ? ### Response: Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinal muscular atrophy ? ### Response: Mutations in the SMN1, UBA1, DYNC1H1, and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. The SMN1 and SMN2 genes provide instructions for making a protein called the survival motor neuron (SMN) protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinal muscular atrophy inherited ? ### Response: Types I, II, III, and IV spinal muscular atrophy are inherited in an autosomal recessive pattern, which means both copies of the SMN1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinal muscular atrophy ? ### Response: These resources address the diagnosis or management of spinal muscular atrophy: - Gene Review: Gene Review: Spinal Muscular Atrophy - Gene Review: Gene Review: Spinal Muscular Atrophy, X-Linked Infantile - Genetic Testing Registry: Adult proximal spinal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? ### Response: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. Among the most common features of AEC syndrome are missing patches of skin (erosions). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? ### Response: AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? ### Response: AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? ### Response: These resources address the diagnosis or management of AEC syndrome: - Gene Review: Gene Review: TP63-Related Disorders - Genetic Testing Registry: Hay-Wells syndrome of ectodermal dysplasia - Genetic Testing Registry: Rapp-Hodgkin ectodermal dysplasia s " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyridoxine-dependent epilepsy ? ### Response: Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyridoxine-dependent epilepsy ? ### Response: Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pyridoxine-dependent epilepsy ? ### Response: Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is pyridoxine-dependent epilepsy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pyridoxine-dependent epilepsy ? ### Response: These resources address the diagnosis or management of pyridoxine-dependent epilepsy: - Gene Review: Gene Review: Pyridoxine-Dependent Epilepsy - Genetic Testing Registry: Pyridoxine-dependent epilepsy - MedlinePlus Encyclopedia: Generalized tonic-clonic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wiskott-Aldrich syndrome ? ### Response: Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wiskott-Aldrich syndrome ? ### Response: Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wiskott-Aldrich syndrome ? ### Response: Mutations in the WAS gene cause Wiskott-Aldrich syndrome. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wiskott-Aldrich syndrome inherited ? ### Response: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wiskott-Aldrich syndrome ? ### Response: These resources address the diagnosis or management of Wiskott-Aldrich syndrome: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Wiskott-Aldrich syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Marrow Donor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) short QT syndrome ? ### Response: Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term ""short QT"" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) short QT syndrome ? ### Response: Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term ""short QT"" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to short QT syndrome ? ### Response: Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. " "Below is an instruction from Human. Write a response. ### Instruction: Is short QT syndrome inherited ? ### Response: Short QT syndrome appears to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for short QT syndrome ? ### Response: These resources address the diagnosis or management of short QT syndrome: - Genetic Testing Registry: Short QT syndrome 1 - Genetic Testing Registry: Short QT syndrome 2 - Genetic Testing Registry: Short QT syndrome 3 - MedlinePlus Encyclopedia: Arrhyth " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal muscular atrophy with respiratory distress type 1 ? ### Response: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal muscular atrophy with respiratory distress type 1 ? ### Response: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinal muscular atrophy with respiratory distress type 1 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinal muscular atrophy with respiratory distress type 1 ? ### Response: These resources address the diagnosis or management of SMARD1: - Genetic Testing Registry: Spinal muscular atrophy with respiratory distress 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudocholinesterase deficiency ? ### Response: Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudocholinesterase deficiency ? ### Response: Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pseudocholinesterase deficiency ? ### Response: Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. " "Below is an instruction from Human. Write a response. ### Instruction: Is pseudocholinesterase deficiency inherited ? ### Response: When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pseudocholinesterase deficiency ? ### Response: These resources address the diagnosis or management of pseudocholinesterase deficiency: - MedlinePlus Encyclopedia: Cholinesterase (blood test) These resources from MedlinePlus offer information about the diagnosis and management of various health condit " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tourette syndrome ? ### Response: Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tourette syndrome ? ### Response: Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Tourette syndrome ? ### Response: A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neurotransmitters) that are responsible for producing and controlling voluntary movements. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tourette syndrome inherited ? ### Response: The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tourette syndrome ? ### Response: These resources address the diagnosis or management of Tourette syndrome: - Gene Review: Gene Review: Tourette Disorder Overview - Genetic Testing Registry: Tourette Syndrome - MedlinePlus Encyclopedia: Gilles de la Tourette syndrome These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fibrodysplasia ossificans progressiva ? ### Response: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fibrodysplasia ossificans progressiva ? ### Response: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fibrodysplasia ossificans progressiva ? ### Response: Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: Is fibrodysplasia ossificans progressiva inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fibrodysplasia ossificans progressiva ? ### Response: These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various hea " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenosine monophosphate deaminase deficiency ? ### Response: Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by adenosine monophosphate deaminase deficiency ? ### Response: AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adenosine monophosphate deaminase deficiency ? ### Response: Mutations in the AMPD1 gene cause AMP deaminase deficiency. The AMPD1 gene provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscle, where it plays a role in producing energy within muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase and impair the muscle cells' ability to produce energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is adenosine monophosphate deaminase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adenosine monophosphate deaminase deficiency ? ### Response: These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Snyder-Robinson syndrome ? ### Response: Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males. Males with Snyder-Robinson syndrome have delayed development and intellectual disability beginning in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Snyder-Robinson syndrome ? ### Response: Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males. Males with Snyder-Robinson syndrome have delayed development and intellectual disability beginning in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Snyder-Robinson syndrome ? ### Response: Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Snyder-Robinson syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Snyder-Robinson syndrome ? ### Response: These resources address the diagnosis or management of Snyder-Robinson syndrome: - Gene Review: Gene Review: Snyder-Robinson Syndrome - Genetic Testing Registry: Snyder Robinson syndrome These resources from MedlinePlus offer information about the diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thrombotic thrombocytopenic purpura ? ### Response: Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by thrombotic thrombocytopenic purpura ? ### Response: The precise incidence of thrombotic thrombocytopenic purpura is unknown. Researchers estimate that, depending on geographic location, the condition affects 1.7 to 11 per million people each year in the United States. For unknown reasons, the disorder occurs more frequently in women than in men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to thrombotic thrombocytopenic purpura ? ### Response: Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: Is thrombotic thrombocytopenic purpura inherited ? ### Response: The familial form of thrombotic thrombocytopenic purpura is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for thrombotic thrombocytopenic purpura ? ### Response: These resources address the diagnosis or management of thrombotic thrombocytopenic purpura: - Genetic Testing Registry: Upshaw-Schulman syndrome - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Hemolytic anemia - MedlinePlus Encyclope " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant hypocalcemia ? ### Response: Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant hypocalcemia ? ### Response: Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant hypocalcemia ? ### Response: Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins produced from these genes work together to regulate the amount of calcium in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal dominant hypocalcemia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small number of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal dominant hypocalcemia ? ### Response: These resources address the diagnosis or management of autosomal dominant hypocalcemia: - Genetic Testing Registry: Autosomal dominant hypocalcemia These resources from MedlinePlus offer information about the diagnosis and management of various health co " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive supranuclear palsy ? ### Response: Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive supranuclear palsy ? ### Response: Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to progressive supranuclear palsy ? ### Response: In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy. " "Below is an instruction from Human. Write a response. ### Instruction: Is progressive supranuclear palsy inherited ? ### Response: Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for progressive supranuclear palsy ? ### Response: These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Su " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked infantile nystagmus ? ### Response: X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked infantile nystagmus ? ### Response: X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked infantile nystagmus ? ### Response: Mutations in the FRMD7 gene cause X-linked infantile nystagmus. The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found mostly in areas of the brain that control eye movement and in the light-sensitive tissue at the back of the eye (retina). " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked infantile nystagmus inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked infantile nystagmus ? ### Response: These resources address the diagnosis or management of X-linked infantile nystagmus: - Gene Review: Gene Review: FRMD7-Related Infantile Nystagmus - Genetic Testing Registry: Infantile nystagmus, X-linked - MedlinePlus Encyclopedia: Nystagmus These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) combined malonic and methylmalonic aciduria ? ### Response: Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) combined malonic and methylmalonic aciduria ? ### Response: Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. " "Below is an instruction from Human. Write a response. ### Instruction: Is combined malonic and methylmalonic aciduria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for combined malonic and methylmalonic aciduria ? ### Response: These resources address the diagnosis or management of CMAMMA: - Genetic Testing Registry: Combined malonic and methylmalonic aciduria - Organic Acidemia Association: What are Organic Acidemias? These resources from MedlinePlus offer information about t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary fructose intolerance ? ### Response: Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary fructose intolerance ? ### Response: Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary fructose intolerance ? ### Response: Mutations in the ALDOB gene cause hereditary fructose intolerance. The ALDOB gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in the liver and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary fructose intolerance inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary fructose intolerance ? ### Response: These resources address the diagnosis or management of hereditary fructose intolerance: - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis - Gene Review: Gene Review: Hereditary Fructose Intolerance - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Greig cephalopolysyndactyly syndrome ? ### Response: Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Greig cephalopolysyndactyly syndrome ? ### Response: Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). " "Below is an instruction from Human. Write a response. ### Instruction: Is Greig cephalopolysyndactyly syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Greig cephalopolysyndactyly syndrome ? ### Response: These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Pol " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) D-bifunctional protein deficiency ? ### Response: D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) D-bifunctional protein deficiency ? ### Response: D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. " "Below is an instruction from Human. Write a response. ### Instruction: Is D-bifunctional protein deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for D-bifunctional protein deficiency ? ### Response: These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency These resources from MedlinePlus offer i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ornithine translocase deficiency ? ### Response: Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ornithine translocase deficiency ? ### Response: Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ornithine translocase deficiency ? ### Response: Mutations in the SLC25A15 gene cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is ornithine translocase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ornithine translocase deficiency ? ### Response: These resources address the diagnosis or management of ornithine translocase deficiency: - Baby's First Test - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - Gene Review: Gene Review: Urea Cycle Disorders Overview " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked lymphoproliferative disease ? ### Response: X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked lymphoproliferative disease ? ### Response: X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked lymphoproliferative disease ? ### Response: Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked lymphoproliferative disease inherited ? ### Response: This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of an associated gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked lymphoproliferative disease ? ### Response: These resources address the diagnosis or management of XLP: - Children's Hospital of Philadelphia - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked - Genetic Testing Re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) metatropic dysplasia ? ### Response: Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term ""metatropic"" is derived from the Greek word ""metatropos,"" which means ""changing patterns."" This name reflects the fact that the skeletal abnormalities associated with the condition change over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) metatropic dysplasia ? ### Response: Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term ""metatropic"" is derived from the Greek word ""metatropos,"" which means ""changing patterns."" This name reflects the fact that the skeletal abnormalities associated with the condition change over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to metatropic dysplasia ? ### Response: Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is metatropic dysplasia inherited ? ### Response: Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for metatropic dysplasia ? ### Response: These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DOLK-congenital disorder of glycosylation ? ### Response: DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DOLK-congenital disorder of glycosylation ? ### Response: DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to DOLK-congenital disorder of glycosylation ? ### Response: DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is DOLK-congenital disorder of glycosylation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for DOLK-congenital disorder of glycosylation ? ### Response: These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encycloped " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Li-Fraumeni syndrome ? ### Response: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Li-Fraumeni syndrome ? ### Response: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Li-Fraumeni syndrome ? ### Response: The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Li-Fraumeni syndrome inherited ? ### Response: Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Li-Fraumeni syndrome ? ### Response: These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by CASK-related intellectual disability ? ### Response: The prevalence of CASK-related intellectual disability is unknown. More than 50 females with MICPCH have been described in the medical literature, while only a few affected males have been described. By contrast, more than 20 males but only a few females have been diagnosed with the milder form of the disorder, XL-ID with or without nystagmus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CASK-related intellectual disability ? ### Response: CASK-related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. " "Below is an instruction from Human. Write a response. ### Instruction: Is CASK-related intellectual disability inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CASK-related intellectual disability ? ### Response: These resources address the diagnosis or management of CASK-related intellectual disability: - Gene Review: Gene Review: CASK-Related Disorders - Genetic Testing Registry: Mental retardation and microcephaly with pontine and cerebellar hypoplasia These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) facioscapulohumeral muscular dystrophy ? ### Response: Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) facioscapulohumeral muscular dystrophy ? ### Response: Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to facioscapulohumeral muscular dystrophy ? ### Response: Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3. " "Below is an instruction from Human. Write a response. ### Instruction: Is facioscapulohumeral muscular dystrophy inherited ? ### Response: FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a ""permissive"" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for facioscapulohumeral muscular dystrophy ? ### Response: These resources address the diagnosis or management of facioscapulohumeral muscular dystrophy: - Gene Review: Gene Review: Facioscapulohumeral Muscular Dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy - Genetic Testing Registr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) paramyotonia congenita ? ### Response: Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) paramyotonia congenita ? ### Response: Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to paramyotonia congenita ? ### Response: Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to paramyotonia congenita ? ### Response: Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for paramyotonia congenita ? ### Response: These resources address the diagnosis or management of paramyotonia congenita: - Genetic Testing Registry: Paramyotonia congenita of von Eulenburg - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bowen-Conradi syndrome ? ### Response: Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Bowen-Conradi syndrome ? ### Response: Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bowen-Conradi syndrome ? ### Response: Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bowen-Conradi syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bowen-Conradi syndrome ? ### Response: These resources address the diagnosis or management of Bowen-Conradi syndrome: - Genetic Testing Registry: Bowen-Conradi syndrome - MedlinePlus Encyclopedia: Feeding Tube--Infants These resources from MedlinePlus offer information about the diagnosis an " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paget disease of bone ? ### Response: Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured). The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Paget disease of bone ? ### Response: Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Paget disease of bone ? ### Response: A combination of genetic and environmental factors likely play a role in causing Paget disease of bone. Researchers have identified changes in several genes that increase the risk of the disorder. Other factors, including infections with certain viruses, may be involved in triggering the disease in people who are at risk. " "Below is an instruction from Human. Write a response. ### Instruction: Is Paget disease of bone inherited ? ### Response: In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder. In the remaining cases, the inheritance pattern of classic Paget disease of bone is unclear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Paget disease of bone ? ### Response: These resources address the diagnosis or management of Paget disease of bone: - Genetic Testing Registry: Osteitis deformans - Genetic Testing Registry: Paget disease of bone 4 - Genetic Testing Registry: Paget disease of bone, familial - MedlinePlus En " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mycosis fungoides ? ### Response: Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by mycosis fungoides ? ### Response: Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown reasons, mycosis fungoides affects males nearly twice as often as females. In the United States, there are an estimated 3. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mycosis fungoides ? ### Response: The cause of mycosis fungoides is unknown. Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. These abnormalities occur during a person's lifetime and are found only in the DNA of cancerous cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is mycosis fungoides inherited ? ### Response: The inheritance pattern of mycosis fungoides has not been determined. Although the condition has been found in multiple members of more than a dozen families, it most often occurs in people with no history of the disorder in their family and is typically not inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mycosis fungoides ? ### Response: These resources address the diagnosis or management of mycosis fungoides: - Cancer Research UK: Treatments for Cutaneous T-Cell Lymphoma - Genetic Testing Registry: Mycosis fungoides - Lymphoma Research Foundation: Cutaneous T-Cell Lymphoma Treatment Opt " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal hereditary motor neuropathy, type V ? ### Response: Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal hereditary motor neuropathy, type V ? ### Response: Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to distal hereditary motor neuropathy, type V ? ### Response: Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. " "Below is an instruction from Human. Write a response. ### Instruction: Is distal hereditary motor neuropathy, type V inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for distal hereditary motor neuropathy, type V ? ### Response: These resources address the diagnosis or management of distal hereditary motor neuropathy, type V: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Genetic Testing " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muenke syndrome ? ### Response: Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muenke syndrome ? ### Response: Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Muenke syndrome ? ### Response: Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Muenke syndrome ? ### Response: Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Muenke syndrome ? ### Response: These resources address the diagnosis or management of Muenke syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Gene Review: Gene Review: Muenke Syndrome - Genetic Testing Registry: Muenke syndrome - MedlinePlus Encyclopedi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gitelman syndrome ? ### Response: Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gitelman syndrome ? ### Response: Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Gitelman syndrome ? ### Response: Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gitelman syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gitelman syndrome ? ### Response: These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dentatorubral-pallidoluysian atrophy ? ### Response: Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by dentatorubral-pallidoluysian atrophy ? ### Response: DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe. Although DRPLA is rare in the United States, it has been studied in a large African American family from the Haw River area of North Carolina. " "Below is an instruction from Human. Write a response. ### Instruction: Is dentatorubral-pallidoluysian atrophy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dentatorubral-pallidoluysian atrophy ? ### Response: These resources address the diagnosis or management of DRPLA: - Gene Review: Gene Review: DRPLA - Genetic Testing Registry: Dentatorubral pallidoluysian atrophy - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Epilepsy These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) periventricular heterotopia ? ### Response: Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means ""out of place."" In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) periventricular heterotopia ? ### Response: Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means ""out of place."" In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is periventricular heterotopia inherited ? ### Response: Periventricular heterotopia can have different inheritance patterns. When this condition is caused by mutations in the FLNA gene, it is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for periventricular heterotopia ? ### Response: These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 3A ? ### Response: Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by spastic paraplegia type 3A ? ### Response: Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spastic paraplegia type 3A ? ### Response: Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 3A inherited ? ### Response: Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 3A ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 3A: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 3A - Genetic Testing Registry: Spastic paraplegia 3 - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sickle cell disease ? ### Response: Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by sickle cell disease ? ### Response: Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sickle cell disease ? ### Response: Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is sickle cell disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sickle cell disease ? ### Response: These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Tes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) histiocytosis-lymphadenopathy plus syndrome ? ### Response: Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to histiocytosis-lymphadenopathy plus syndrome ? ### Response: Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene, which provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). ENT3 belongs to a family of proteins that transport molecules called nucleosides in cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is histiocytosis-lymphadenopathy plus syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for histiocytosis-lymphadenopathy plus syndrome ? ### Response: These resources address the diagnosis or management of histiocytosis-lymphadenopathy plus syndrome: - Genetic Testing Registry: Histiocytosis-lymphadenopathy plus syndrome These resources from MedlinePlus offer information about the diagnosis and managem " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal myopathy 2 ? ### Response: Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal myopathy 2 ? ### Response: Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to distal myopathy 2 ? ### Response: A mutation in the MATR3 gene has been identified in people with distal myopathy 2. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to distal myopathy 2 ? ### Response: A mutation in the MATR3 gene has been identified in people with distal myopathy 2. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for distal myopathy 2 ? ### Response: These resources address the diagnosis or management of distal myopathy 2: - Genetic Testing Registry: Myopathy, distal, 2 - MedlinePlus Encyclopedia: Muscular Dystrophy - National Institute of Neurological Disorders and Stroke: Muscular Dystrophy: Hope T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenylosuccinate lyase deficiency ? ### Response: Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenylosuccinate lyase deficiency ? ### Response: Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adenylosuccinate lyase deficiency ? ### Response: All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP that serve as energy sources in the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is adenylosuccinate lyase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adenylosuccinate lyase deficiency ? ### Response: These resources address the diagnosis or management of adenylosuccinate lyase deficiency: - Genetic Testing Registry: Adenylosuccinate lyase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various healt " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pulmonary alveolar microlithiasis ? ### Response: Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pulmonary alveolar microlithiasis ? ### Response: Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pulmonary alveolar microlithiasis ? ### Response: Pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene. This gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). " "Below is an instruction from Human. Write a response. ### Instruction: Is pulmonary alveolar microlithiasis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pulmonary alveolar microlithiasis ? ### Response: These resources address the diagnosis or management of pulmonary alveolar microlithiasis: - Genetic Testing Registry: Pulmonary alveolar microlithiasis - MedlinePlus Health Topic: Oxygen Therapy - MedlinePlus Health Topic: Pulmonary Rehabilitation - Nat " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wagner syndrome ? ### Response: Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wagner syndrome ? ### Response: Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wagner syndrome ? ### Response: Mutations in the VCAN gene cause Wagner syndrome. The VCAN gene provides instructions for making a protein called versican. Versican is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wagner syndrome ? ### Response: Mutations in the VCAN gene cause Wagner syndrome. The VCAN gene provides instructions for making a protein called versican. Versican is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wagner syndrome ? ### Response: These resources address the diagnosis or management of Wagner syndrome: - Gene Review: Gene Review: VCAN-Related Vitreoretinopathy - Genetic Testing Registry: Wagner syndrome These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rabson-Mendenhall syndrome ? ### Response: Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rabson-Mendenhall syndrome ? ### Response: Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Rabson-Mendenhall syndrome ? ### Response: Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is Rabson-Mendenhall syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rabson-Mendenhall syndrome ? ### Response: These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of vari " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aspartylglucosaminuria ? ### Response: Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aspartylglucosaminuria ? ### Response: Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to aspartylglucosaminuria ? ### Response: Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). " "Below is an instruction from Human. Write a response. ### Instruction: Is aspartylglucosaminuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aspartylglucosaminuria ? ### Response: These resources address the diagnosis or management of aspartylglucosaminuria: - Genetic Testing Registry: Aspartylglycosaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenine phosphoribosyltransferase deficiency ? ### Response: Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenine phosphoribosyltransferase deficiency ? ### Response: Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adenine phosphoribosyltransferase deficiency ? ### Response: Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is adenine phosphoribosyltransferase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adenine phosphoribosyltransferase deficiency ? ### Response: These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency: - Boston Children's Hospital: Pediatric Kidney Stones in Children - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency - Genetic Test " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) FG syndrome ? ### Response: FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. ""FG"" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) FG syndrome ? ### Response: FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. ""FG"" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to FG syndrome ? ### Response: Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is FG syndrome inherited ? ### Response: FG syndrome is inherited in an X-linked recessive pattern. The genes likely associated with this disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for FG syndrome ? ### Response: These resources address the diagnosis or management of FG syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: FG syndrome - Genetic Testing Registry: FG syndrome 2 - Genetic Testing Registry: FG syndrome 3 - Geneti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leukocyte adhesion deficiency type 1 ? ### Response: Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leukocyte adhesion deficiency type 1 ? ### Response: Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to leukocyte adhesion deficiency type 1 ? ### Response: Mutations in the ITGB2 gene cause leukocyte adhesion deficiency type 1. This gene provides instructions for making one part (the 2 subunit) of at least four different proteins known as 2 integrins. Integrins that contain the 2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). " "Below is an instruction from Human. Write a response. ### Instruction: Is leukocyte adhesion deficiency type 1 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for leukocyte adhesion deficiency type 1 ? ### Response: These resources address the diagnosis or management of leukocyte adhesion deficiency type 1: - Genetic Testing Registry: Leukocyte adhesion deficiency type 1 - MedlinePlus Encyclopedia: Gingivitis - MedlinePlus Encyclopedia: Immunodeficiency Disorders - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menkes syndrome ? ### Response: Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menkes syndrome ? ### Response: Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Menkes syndrome ? ### Response: Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. " "Below is an instruction from Human. Write a response. ### Instruction: Is Menkes syndrome inherited ? ### Response: Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Menkes syndrome ? ### Response: These resources address the diagnosis or management of Menkes syndrome: - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Genetic Testing Registry: Menkes kinky-hair syndrome - MedlinePlus Encyclopedia: Copper in diet - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudoachondroplasia ? ### Response: Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudoachondroplasia ? ### Response: Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pseudoachondroplasia ? ### Response: Mutations in the COMP gene cause pseudoachondroplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. " "Below is an instruction from Human. Write a response. ### Instruction: Is pseudoachondroplasia inherited ? ### Response: Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pseudoachondroplasia ? ### Response: These resources address the diagnosis or management of pseudoachondroplasia: - Gene Review: Gene Review: Pseudoachondroplasia - Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome These resources from MedlinePlus offer " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lacrimo-auriculo-dento-digital syndrome ? ### Response: Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lacrimo-auriculo-dento-digital syndrome ? ### Response: Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). " "Below is an instruction from Human. Write a response. ### Instruction: Is lacrimo-auriculo-dento-digital syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alternating hemiplegia of childhood ? ### Response: Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alternating hemiplegia of childhood ? ### Response: Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. " "Below is an instruction from Human. Write a response. ### Instruction: Is alternating hemiplegia of childhood inherited ? ### Response: Alternating hemiplegia of childhood is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of alternating hemiplegia of childhood result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alternating hemiplegia of childhood ? ### Response: These resources address the diagnosis or management of alternating hemiplegia of childhood: - The Great Ormond Street Hospital - University of Utah School of Medicine These resources from MedlinePlus offer information about the diagnosis and management " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive familial intrahepatic cholestasis ? ### Response: Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive familial intrahepatic cholestasis ? ### Response: Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is progressive familial intrahepatic cholestasis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for progressive familial intrahepatic cholestasis ? ### Response: These resources address the diagnosis or management of progressive familial intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2 - Genetic Testing Registry: Pr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) megalencephalic leukoencephalopathy with subcortical cysts ? ### Response: Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) megalencephalic leukoencephalopathy with subcortical cysts ? ### Response: Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ? ### Response: Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is megalencephalic leukoencephalopathy with subcortical cysts inherited ? ### Response: All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ? ### Response: These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts: - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts - Genetic Testing Registry: Megalencephalic leukoence " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trimethylaminuria ? ### Response: Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trimethylaminuria ? ### Response: Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to trimethylaminuria ? ### Response: Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soybeans and peas), certain kinds of fish, and other foods. " "Below is an instruction from Human. Write a response. ### Instruction: Is trimethylaminuria inherited ? ### Response: Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for trimethylaminuria ? ### Response: These resources address the diagnosis or management of trimethylaminuria: - Gene Review: Gene Review: Primary Trimethylaminuria - Genetic Testing Registry: Trimethylaminuria - Monell Chemical Senses Center: TMAU & Body Malodors - National Human Genome R " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) horizontal gaze palsy with progressive scoliosis ? ### Response: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) horizontal gaze palsy with progressive scoliosis ? ### Response: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ? ### Response: HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which transmit information about sensory input (such as touch, pain, and temperature). " "Below is an instruction from Human. Write a response. ### Instruction: Is horizontal gaze palsy with progressive scoliosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for horizontal gaze palsy with progressive scoliosis ? ### Response: These resources address the diagnosis or management of HGPPS: - Genetic Testing Registry: Gaze palsy, familial horizontal, with progressive scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary macronodular adrenal hyperplasia ? ### Response: Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by primary macronodular adrenal hyperplasia ? ### Response: PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary macronodular adrenal hyperplasia ? ### Response: In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is primary macronodular adrenal hyperplasia inherited ? ### Response: People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary macronodular adrenal hyperplasia ? ### Response: These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Baller-Gerold syndrome ? ### Response: Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Baller-Gerold syndrome ? ### Response: Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Baller-Gerold syndrome ? ### Response: Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. " "Below is an instruction from Human. Write a response. ### Instruction: Is Baller-Gerold syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Baller-Gerold syndrome ? ### Response: These resources address the diagnosis or management of Baller-Gerold syndrome: - Gene Review: Gene Review: Baller-Gerold Syndrome - Genetic Testing Registry: Baller-Gerold syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher syndrome ? ### Response: Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Usher syndrome ? ### Response: Usher syndrome is thought to be responsible for 3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Usher syndrome type I is estimated to occur in at least 4 per 100,000 people. It may be more common in certain ethnic populations, such as people with Ashkenazi (central and eastern European) Jewish ancestry and the Acadian population in Louisiana. " "Below is an instruction from Human. Write a response. ### Instruction: Is Usher syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Usher syndrome ? ### Response: These resources address the diagnosis or management of Usher syndrome: - Gene Review: Gene Review: Usher Syndrome Type I - Gene Review: Gene Review: Usher Syndrome Type II - Genetic Testing Registry: Usher syndrome type 2 - Genetic Testing Registry: Ush " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary angioedema ? ### Response: Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary angioedema ? ### Response: Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary angioedema ? ### Response: Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary angioedema inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary angioedema ? ### Response: These resources address the diagnosis or management of hereditary angioedema: - Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor - Genetic Testing Registry: Hereditary angioneurotic edema - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proteus syndrome ? ### Response: Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Proteus syndrome ? ### Response: Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Proteus syndrome ? ### Response: Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Proteus syndrome ? ### Response: Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Proteus syndrome ? ### Response: These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs These resources from MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cytochrome c oxidase deficiency ? ### Response: Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cytochrome c oxidase deficiency ? ### Response: Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cytochrome c oxidase deficiency ? ### Response: Cytochrome c oxidase deficiency is caused by mutations in one of at least 14 genes. In humans, most genes are found in DNA in the cell's nucleus (nuclear DNA). However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). " "Below is an instruction from Human. Write a response. ### Instruction: Is cytochrome c oxidase deficiency inherited ? ### Response: Cytochrome c oxidase deficiency can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in genes within nuclear DNA, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cytochrome c oxidase deficiency ? ### Response: These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked hyper IgM syndrome ? ### Response: X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked hyper IgM syndrome ? ### Response: X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked hyper IgM syndrome ? ### Response: Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked hyper IgM syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked hyper IgM syndrome ? ### Response: These resources address the diagnosis or management of X-linked hyper IgM syndrome: - Gene Review: Gene Review: X-Linked Hyper IgM Syndrome - Genetic Testing Registry: Immunodeficiency with hyper IgM type 1 - MedlinePlus Encyclopedia: Immunodeficiency Di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive primary microcephaly ? ### Response: Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for ""microcephaly primary hereditary"") is a condition in which infants are born with a very small head and a small brain. The term ""microcephaly"" comes from the Greek words for ""small head. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by autosomal recessive primary microcephaly ? ### Response: The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive primary microcephaly ? ### Response: MCPH can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases. The genes associated with MCPH play important roles in early brain development, particularly in determining brain size. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive primary microcephaly inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive primary microcephaly ? ### Response: These resources address the diagnosis or management of MCPH: - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - Genetic Testing Registry: Primary autosomal recessive microcephaly 1 - Genetic Te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oculopharyngeal muscular dystrophy ? ### Response: Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by oculopharyngeal muscular dystrophy ? ### Response: In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to oculopharyngeal muscular dystrophy ? ### Response: Mutations in the PABPN1 gene cause oculopharyngeal muscular dystrophy. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is oculopharyngeal muscular dystrophy inherited ? ### Response: Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded polyalanine tract of between 12 and 17 alanines. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for oculopharyngeal muscular dystrophy ? ### Response: These resources address the diagnosis or management of oculopharyngeal muscular dystrophy: - Gene Review: Gene Review: Oculopharyngeal Muscular Dystrophy - Genetic Testing Registry: Oculopharyngeal muscular dystrophy - MedlinePlus Encyclopedia: Ptosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) von Willebrand disease ? ### Response: Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by von Willebrand disease ? ### Response: Von Willebrand disease is estimated to affect 1 in 100 to 10,000 individuals. Because people with mild signs and symptoms may not come to medical attention, it is thought that this condition is underdiagnosed. Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to von Willebrand disease ? ### Response: Mutations in the VWF gene cause von Willebrand disease. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. " "Below is an instruction from Human. Write a response. ### Instruction: Is von Willebrand disease inherited ? ### Response: Von Willebrand disease can have different inheritance patterns. Most cases of type 1 and type 2 von Willebrand disease are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for von Willebrand disease ? ### Response: These resources address the diagnosis or management of von Willebrand disease: - Gene Review: Gene Review: von Willebrand Disease - Genetic Testing Registry: von Willebrand disorder - MedlinePlus Encyclopedia: von Willebrand Disease These resources fro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shprintzen-Goldberg syndrome ? ### Response: Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Shprintzen-Goldberg syndrome ? ### Response: Shprintzen-Goldberg syndrome is a rare condition, although its prevalence is unknown. It is difficult to identify the number of affected individuals, because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Is Shprintzen-Goldberg syndrome inherited ? ### Response: Shprintzen-Goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) gene mutations and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shprintzen-Goldberg syndrome ? ### Response: These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutamate formiminotransferase deficiency ? ### Response: Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms. People with the mild form of glutamate formiminotransferase deficiency have minor delays in physical and mental development and may have mild intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by glutamate formiminotransferase deficiency ? ### Response: Glutamate formiminotransferase deficiency is a rare disorder; approximately 20 affected individuals have been identified. Of these, about one-quarter have the severe form of the disorder. Everyone reported with the severe form has been of Japanese origin. The remaining individuals, who come from a variety of ethnic backgrounds, are affected by the mild form of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glutamate formiminotransferase deficiency ? ### Response: Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is glutamate formiminotransferase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glutamate formiminotransferase deficiency ? ### Response: These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diag " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Northern epilepsy ? ### Response: Northern epilepsy is a genetic condition that causes recurrent seizures (epilepsy) beginning in childhood, usually between ages 5 and 10. Seizures are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Northern epilepsy ? ### Response: Northern epilepsy is a genetic condition that causes recurrent seizures (epilepsy) beginning in childhood, usually between ages 5 and 10. Seizures are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Northern epilepsy ? ### Response: Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. " "Below is an instruction from Human. Write a response. ### Instruction: Is Northern epilepsy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Northern epilepsy ? ### Response: These resources address the diagnosis or management of Northern epilepsy: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller syndrome ? ### Response: Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller syndrome ? ### Response: Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Miller syndrome ? ### Response: Mutations in the DHODH gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is Miller syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Miller syndrome ? ### Response: These resources address the diagnosis or management of Miller syndrome: - Genetic Testing Registry: Miller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehlers-Danlos syndrome ? ### Response: Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Ehlers-Danlos syndrome ? ### Response: Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ehlers-Danlos syndrome ? ### Response: Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the cause of this type is unknown). " "Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome inherited ? ### Response: The inheritance pattern of Ehlers-Danlos syndrome varies by type. The arthrochalasia, classical, hypermobility, and vascular forms of the disorder have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome ? ### Response: These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Werner syndrome ? ### Response: Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Werner syndrome ? ### Response: Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Werner syndrome ? ### Response: Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. " "Below is an instruction from Human. Write a response. ### Instruction: Is Werner syndrome inherited ? ### Response: Werner syndrome is inherited in an autosomal recessive pattern, which means both copies of the WRN gene in each cell have mutations. The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Werner syndrome ? ### Response: These resources address the diagnosis or management of Werner syndrome: - Gene Review: Gene Review: Werner Syndrome - Genetic Testing Registry: Werner syndrome These resources from MedlinePlus offer information about the diagnosis and management of vari " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked infantile spasm syndrome ? ### Response: X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked infantile spasm syndrome ? ### Response: X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked infantile spasm syndrome ? ### Response: X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked infantile spasm syndrome inherited ? ### Response: X-linked infantile spasm syndrome can have different inheritance patterns depending on the genetic cause. When caused by mutations in the ARX gene, this condition is inherited in an X-linked recessive pattern. The ARX gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked infantile spasm syndrome ? ### Response: These resources address the diagnosis or management of X-linked infantile spasm syndrome: - Child Neurology Foundation - Genetic Testing Registry: Early infantile epileptic encephalopathy 2 - Genetic Testing Registry: West syndrome These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knobloch syndrome ? ### Response: Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Knobloch syndrome ? ### Response: Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Knobloch syndrome ? ### Response: Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is Knobloch syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Knobloch syndrome ? ### Response: These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retina " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ? ### Response: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Stevens-Johnson syndrome/toxic epidermal necrolysis ? ### Response: SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis. People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to develop SJS/TEN than the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Stevens-Johnson syndrome/toxic epidermal necrolysis ? ### Response: Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system. The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Stevens-Johnson syndrome/toxic epidermal necrolysis ? ### Response: Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system. The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stevens-Johnson syndrome/toxic epidermal necrolysis ? ### Response: These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offe " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign recurrent intrahepatic cholestasis ? ### Response: Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign recurrent intrahepatic cholestasis ? ### Response: Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to benign recurrent intrahepatic cholestasis ? ### Response: Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats. " "Below is an instruction from Human. Write a response. ### Instruction: Is benign recurrent intrahepatic cholestasis inherited ? ### Response: Both types of BRIC are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for benign recurrent intrahepatic cholestasis ? ### Response: These resources address the diagnosis or management of benign recurrent intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 1 - Genetic Testing Registry: Benign rec " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson disease ? ### Response: Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson disease ? ### Response: Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Wilson disease ? ### Response: Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wilson disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wilson disease ? ### Response: These resources address the diagnosis or management of Wilson disease: - Gene Review: Gene Review: Wilson Disease - Genetic Testing Registry: Wilson's disease - MedlinePlus Encyclopedia: Wilson's disease - National Human Genome Research Institute Thes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) beta thalassemia ? ### Response: Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by beta thalassemia ? ### Response: Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to beta thalassemia ? ### Response: Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin. " "Below is an instruction from Human. Write a response. ### Instruction: Is beta thalassemia inherited ? ### Response: Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for beta thalassemia ? ### Response: These resources address the diagnosis or management of beta thalassemia: - Gene Review: Gene Review: Beta-Thalassemia - Genetic Testing Registry: Beta-thalassemia, dominant inclusion body type - Genetic Testing Registry: beta Thalassemia - MedlinePlus E " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) esophageal atresia/tracheoesophageal fistula ? ### Response: Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) esophageal atresia/tracheoesophageal fistula ? ### Response: Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to esophageal atresia/tracheoesophageal fistula ? ### Response: Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to esophageal atresia/tracheoesophageal fistula ? ### Response: Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for esophageal atresia/tracheoesophageal fistula ? ### Response: These resources address the diagnosis or management of EA/TEF: - Boston Children's Hospital: Esophageal Atresia - Children's Hospital of Wisconsin - Gene Review: Gene Review: Esophageal Atresia/Tracheoesophageal Fistula Overview - Genetic Testing Regist " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PDGFRB-associated chronic eosinophilic leukemia ? ### Response: PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PDGFRB-associated chronic eosinophilic leukemia ? ### Response: PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to PDGFRB-associated chronic eosinophilic leukemia ? ### Response: PDGFRB-associated chronic eosinophilic leukemia is caused by genetic rearrangements that join part of the PDGFRB gene with part of another gene. At least 20 genes have been found that fuse with the PDGFRB gene to cause PDGFRB-associated chronic eosinophilic leukemia. " "Below is an instruction from Human. Write a response. ### Instruction: Is PDGFRB-associated chronic eosinophilic leukemia inherited ? ### Response: PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ? ### Response: These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Ency " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) androgen insensitivity syndrome ? ### Response: Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) androgen insensitivity syndrome ? ### Response: Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to androgen insensitivity syndrome ? ### Response: Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: Is androgen insensitivity syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In genetic males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for androgen insensitivity syndrome ? ### Response: These resources address the diagnosis or management of androgen insensitivity syndrome: - Gene Review: Gene Review: Androgen Insensitivity Syndrome - Genetic Testing Registry: Androgen resistance syndrome - MedlinePlus Encyclopedia: Androgen Insensitivit " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondyloenchondrodysplasia with immune dysregulation ? ### Response: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on the long bones and spinal bones that can be seen on x-rays. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloenchondrodysplasia with immune dysregulation ? ### Response: Mutations in the ACP5 gene cause SPENCDI. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase type 5 (TRAP). The TRAP enzyme primarily regulates the activity of a protein called osteopontin, which is produced in bone cells called osteoclasts and in immune cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is spondyloenchondrodysplasia with immune dysregulation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is spondyloenchondrodysplasia with immune dysregulation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oculodentodigital dysplasia ? ### Response: Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oculodentodigital dysplasia ? ### Response: Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to oculodentodigital dysplasia ? ### Response: Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is oculodentodigital dysplasia inherited ? ### Response: Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for oculodentodigital dysplasia ? ### Response: These resources address the diagnosis or management of oculodentodigital dysplasia: - Genetic Testing Registry: Oculodentodigital dysplasia - MedlinePlus Encyclopedia: Webbing of the fingers or toes - UC Davis Children's Hospital: Cleft and Craniofacial " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cone-rod dystrophy ? ### Response: Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cone-rod dystrophy ? ### Response: Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cone-rod dystrophy ? ### Response: Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is cone-rod dystrophy inherited ? ### Response: Cone-rod dystrophy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cone-rod dystrophy ? ### Response: These resources address the diagnosis or management of cone-rod dystrophy: - Cleveland Clinic: Eye Examinations: What to Expect - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED - Genetic Testing Registry: Cone-rod dystrophy - Genetic Testin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple endocrine neoplasia ? ### Response: Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by multiple endocrine neoplasia ? ### Response: Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple endocrine neoplasia ? ### Response: Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia. Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple endocrine neoplasia inherited ? ### Response: Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple endocrine neoplasia ? ### Response: These resources address the diagnosis or management of multiple endocrine neoplasia: - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1 - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2 - Genetic Testing Registry: Familial medu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isovaleric acidemia ? ### Response: Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isovaleric acidemia ? ### Response: Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isovaleric acidemia ? ### Response: Mutations in the IVD gene cause isovaleric acidemia. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is isovaleric acidemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isovaleric acidemia ? ### Response: These resources address the diagnosis or management of isovaleric acidemia: - Baby's First Test - Genetic Testing Registry: Isovaleryl-CoA dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) activated PI3K-delta syndrome ? ### Response: Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) activated PI3K-delta syndrome ? ### Response: Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to activated PI3K-delta syndrome ? ### Response: Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to activated PI3K-delta syndrome ? ### Response: Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for activated PI3K-delta syndrome ? ### Response: These resources address the diagnosis or management of activated PI3K-delta syndrome: - Genetic Testing Registry: Activated PI3K-delta syndrome - National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking To Your Do " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type II ? ### Response: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type II ? ### Response: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucopolysaccharidosis type II ? ### Response: Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucopolysaccharidosis type II inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucopolysaccharidosis type II ? ### Response: These resources address the diagnosis or management of mucopolysaccharidosis type II: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type II - Genetic Testing Registry: Mucopolysaccharidosis, MPS-II - MedlinePlus Encyclopedia: Hun " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fish-eye disease ? ### Response: Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fish-eye disease ? ### Response: Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fish-eye disease ? ### Response: Fish-eye disease is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. " "Below is an instruction from Human. Write a response. ### Instruction: Is fish-eye disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fish-eye disease ? ### Response: These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) factor V deficiency ? ### Response: Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) factor V deficiency ? ### Response: Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to factor V deficiency ? ### Response: Factor V deficiency is usually caused by mutations in the F5 gene, which provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. " "Below is an instruction from Human. Write a response. ### Instruction: Is factor V deficiency inherited ? ### Response: Factor V deficiency is inherited in an autosomal recessive pattern, which means both copies of the F5 gene in each cell have mutations. Individuals with a mutation in a single copy of the F5 gene have a reduced amount of coagulation factor V in their blood and can have mild bleeding problems, although most have no related health effects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for factor V deficiency ? ### Response: These resources address the diagnosis or management of factor V deficiency: - Genetic Testing Registry: Factor V deficiency - MedlinePlus Encyclopedia: Factor V Deficiency These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked chondrodysplasia punctata 2 ? ### Response: X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by X-linked chondrodysplasia punctata 2 ? ### Response: X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked chondrodysplasia punctata 2 inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked chondrodysplasia punctata 2 ? ### Response: These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2: - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial idiopathic basal ganglia calcification ? ### Response: Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial idiopathic basal ganglia calcification ? ### Response: Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial idiopathic basal ganglia calcification ? ### Response: Mutations in the SLC20A2 gene cause nearly half of all cases of FIBGC. A small percentage of cases are caused by mutations in the PDGFRB gene. Other cases of FIBGC appear to be associated with changes in chromosomes 2, 7, 9, and 14, although specific genes have yet to be identified. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial idiopathic basal ganglia calcification inherited ? ### Response: FIBGC is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of an altered SLC20A2 or PDGFRB gene in each cell is sufficient to cause the disorder. This condition appears to follow an autosomal dominant pattern of inheritance when the genetic cause is not known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial idiopathic basal ganglia calcification ? ### Response: These resources address the diagnosis or management of FIBGC: - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Primary Familial Brain Calcification - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2 - Ge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial atrial fibrillation ? ### Response: Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by familial atrial fibrillation ? ### Response: Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial atrial fibrillation ? ### Response: A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial atrial fibrillation ? ### Response: A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial atrial fibrillation ? ### Response: These resources address the diagnosis or management of familial atrial fibrillation: - Genetic Testing Registry: Atrial fibrillation, familial, 1 - Genetic Testing Registry: Atrial fibrillation, familial, 2 - Genetic Testing Registry: Atrial fibrillation " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated growth hormone deficiency ? ### Response: Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated growth hormone deficiency ? ### Response: Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isolated growth hormone deficiency ? ### Response: Isolated growth hormone deficiency is caused by mutations in one of at least three genes. Isolated growth hormone deficiency types IA and II are caused by mutations in the GH1 gene. Type IB is caused by mutations in either the GH1 or GHRHR gene. Type III is caused by mutations in the BTK gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is isolated growth hormone deficiency inherited ? ### Response: Isolated growth hormone deficiency can have different inheritance patterns depending on the type of the condition. Isolated growth hormone deficiency types IA and IB are inherited in an autosomal recessive pattern, which means both copies of the GH1 or GHRHR gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isolated growth hormone deficiency ? ### Response: These resources address the diagnosis or management of isolated growth hormone deficiency: - Genetic Testing Registry: Ateleiotic dwarfism - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency - Genetic Testing Registry: Isolate " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alstrm syndrome ? ### Response: Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alstrm syndrome ? ### Response: Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Alstrm syndrome ? ### Response: Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alstrm syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alstrm syndrome ? ### Response: These resources address the diagnosis or management of Alstrm syndrome: - Gene Review: Gene Review: Alstrom Syndrome - Genetic Testing Registry: Alstrom syndrome - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Alstrm syndrom " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meige disease ? ### Response: Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Meige disease ? ### Response: The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Meige disease ? ### Response: The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively found to cause the signs and symptoms of Meige disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is Meige disease inherited ? ### Response: Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected family member. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meige disease ? ### Response: These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hand-foot-genital syndrome ? ### Response: Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hand-foot-genital syndrome ? ### Response: Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hand-foot-genital syndrome ? ### Response: Mutations in the HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urinary tract, and reproductive system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hand-foot-genital syndrome ? ### Response: Mutations in the HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urinary tract, and reproductive system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hand-foot-genital syndrome ? ### Response: These resources address the diagnosis or management of hand-foot-genital syndrome: - Gene Review: Gene Review: Hand-Foot-Genital Syndrome - Genetic Testing Registry: Hand foot uterus syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Baraitser-Winter syndrome ? ### Response: Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Baraitser-Winter syndrome ? ### Response: Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Baraitser-Winter syndrome inherited ? ### Response: This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Baraitser-Winter syndrome ? ### Response: These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) methylmalonic acidemia ? ### Response: Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to methylmalonic acidemia ? ### Response: Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation. About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is methylmalonic acidemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the MUT, MMAA, MMAB, MMADHC, or MCEE gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition are carriers of one copy of the mutated gene but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for methylmalonic acidemia ? ### Response: These resources address the diagnosis or management of methylmalonic acidemia: - Baby's First Test: Methylmalonic Acidemia (Cobalamin Disorders) - Baby's First Test: Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) - Gene Review: Gene Review: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hepatic fibrosis ? ### Response: Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital hepatic fibrosis ? ### Response: Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital hepatic fibrosis ? ### Response: Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital hepatic fibrosis inherited ? ### Response: The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital hepatic fibrosis ? ### Response: These resources address the diagnosis or management of congenital hepatic fibrosis: - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview - Genetic Testing Registry: Congenital hepatic fibrosis These resources from MedlinePlus offer informati " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q11.2 deletion syndrome ? ### Response: 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by 22q11.2 deletion syndrome ? ### Response: 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 22q11.2 deletion syndrome ? ### Response: Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. " "Below is an instruction from Human. Write a response. ### Instruction: Is 22q11.2 deletion syndrome inherited ? ### Response: The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 22q11.2 deletion syndrome ? ### Response: These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Geneti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) peroxisomal acyl-CoA oxidase deficiency ? ### Response: Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) peroxisomal acyl-CoA oxidase deficiency ? ### Response: Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to peroxisomal acyl-CoA oxidase deficiency ? ### Response: Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. " "Below is an instruction from Human. Write a response. ### Instruction: Is peroxisomal acyl-CoA oxidase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for peroxisomal acyl-CoA oxidase deficiency ? ### Response: These resources address the diagnosis or management of peroxisomal acyl-CoA oxidase deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Pseudoneonatal adrenoleukodystrophy These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-M syndrome ? ### Response: 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3-M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-M syndrome ? ### Response: 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3-M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3-M syndrome ? ### Response: Mutations in the CUL7 gene cause 3-M syndrome. The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system. Cullin-7 helps to assemble a complex known as an E3 ubiquitin ligase. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-M syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-M syndrome ? ### Response: These resources address the diagnosis or management of 3-M syndrome: - Gene Review: Gene Review: 3-M Syndrome - Genetic Testing Registry: Three M syndrome 1 These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 9q22.3 microdeletion ? ### Response: 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 9q22.3 microdeletion ? ### Response: 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 9q22.3 microdeletion ? ### Response: People with a 9q22.3 microdeletion are missing a sequence of at least 352,000 DNA building blocks (base pairs), also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. This 352-kb segment is known as the minimum critical region because it is the smallest deletion that has been found to cause the signs and symptoms described above. " "Below is an instruction from Human. Write a response. ### Instruction: Is 9q22.3 microdeletion inherited ? ### Response: 9q22.3 microdeletions are inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 9 in each cell is sufficient to cause delayed development, intellectual disability, and the features of Gorlin syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 9q22.3 microdeletion ? ### Response: These resources address the diagnosis or management of 9q22.3 microdeletion: - Gene Review: Gene Review: 9q22.3 Microdeletion - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Ency " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) collagen VI-related myopathy ? ### Response: Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by collagen VI-related myopathy ? ### Response: Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to collagen VI-related myopathy ? ### Response: Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is collagen VI-related myopathy inherited ? ### Response: Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullrich congenital muscular dystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for collagen VI-related myopathy ? ### Response: These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosoma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary neuropathy with liability to pressure palsies ? ### Response: Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary neuropathy with liability to pressure palsies ? ### Response: Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary neuropathy with liability to pressure palsies ? ### Response: Mutations in the PMP22 gene cause hereditary neuropathy with liability to pressure palsies. Hereditary neuropathy with liability to pressure palsies is caused by the loss of one copy of the PMP22 gene or alterations within the gene. The consequences of PMP22 gene mutations are not clearly understood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary neuropathy with liability to pressure palsies ? ### Response: Mutations in the PMP22 gene cause hereditary neuropathy with liability to pressure palsies. Hereditary neuropathy with liability to pressure palsies is caused by the loss of one copy of the PMP22 gene or alterations within the gene. The consequences of PMP22 gene mutations are not clearly understood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary neuropathy with liability to pressure palsies ? ### Response: These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to press " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial paroxysmal kinesigenic dyskinesia ? ### Response: Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial paroxysmal kinesigenic dyskinesia ? ### Response: Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ? ### Response: Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control signaling between nerve cells (neurons). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ? ### Response: Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control signaling between nerve cells (neurons). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial paroxysmal kinesigenic dyskinesia ? ### Response: These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer info " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atelosteogenesis type 3 ? ### Response: Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atelosteogenesis type 3 ? ### Response: Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to atelosteogenesis type 3 ? ### Response: Mutations in the FLNB gene cause atelosteogenesis type 3. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is atelosteogenesis type 3 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for atelosteogenesis type 3 ? ### Response: These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Walker-Warburg syndrome ? ### Response: Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Walker-Warburg syndrome ? ### Response: Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Walker-Warburg syndrome ? ### Response: Walker-Warburg syndrome can be caused by mutations in one of several genes, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE. The proteins produced from these genes modify another protein called alpha ()-dystroglycan; this modification, called glycosylation, is required for -dystroglycan to function. " "Below is an instruction from Human. Write a response. ### Instruction: Is Walker-Warburg syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Walker-Warburg syndrome ? ### Response: These resources address the diagnosis or management of Walker-Warburg syndrome: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Genetic Testing Registry: Walker-Warburg congenital muscular dystrophy These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smith-Magenis syndrome ? ### Response: Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Smith-Magenis syndrome ? ### Response: Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Smith-Magenis syndrome ? ### Response: Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Smith-Magenis syndrome inherited ? ### Response: Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Smith-Magenis syndrome ? ### Response: These resources address the diagnosis or management of Smith-Magenis syndrome: - Gene Review: Gene Review: Smith-Magenis Syndrome - Genetic Testing Registry: Smith-Magenis syndrome - MedlinePlus Encyclopedia: Intellectual Disability These resources fro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type VI ? ### Response: Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by glycogen storage disease type VI ? ### Response: The exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type VI ? ### Response: Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type VI inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type VI ? ### Response: These resources address the diagnosis or management of glycogen storage disease type VI: - Gene Review: Gene Review: Glycogen Storage Disease Type VI - Genetic Testing Registry: Glycogen storage disease, type VI These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ring chromosome 14 syndrome ? ### Response: Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ring chromosome 14 syndrome ? ### Response: Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ring chromosome 14 syndrome ? ### Response: Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is ring chromosome 14 syndrome inherited ? ### Response: Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ring chromosome 14 syndrome ? ### Response: These resources address the diagnosis or management of ring chromosome 14 syndrome: - Genetic Testing Registry: Ring chromosome 14 - MedlinePlus Encyclopedia: Chromosome These resources from MedlinePlus offer information about the diagnosis and manageme " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Griscelli syndrome ? ### Response: Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Griscelli syndrome ? ### Response: Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Griscelli syndrome ? ### Response: The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene. The proteins produced from these genes are found in pigment-producing cells called melanocytes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Griscelli syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Griscelli syndrome ? ### Response: These resources address the diagnosis or management of Griscelli syndrome: - Genetic Testing Registry: Griscelli syndrome type 1 - Genetic Testing Registry: Griscelli syndrome type 2 - Genetic Testing Registry: Griscelli syndrome type 3 These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hermansky-Pudlak syndrome ? ### Response: Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Hermansky-Pudlak syndrome ? ### Response: Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Hermansky-Pudlak syndrome ? ### Response: At least nine genes are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes. These protein complexes play a role in the formation and movement (trafficking) of a group of cell structures called lysosome-related organelles (LROs). " "Below is an instruction from Human. Write a response. ### Instruction: Is Hermansky-Pudlak syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hermansky-Pudlak syndrome ? ### Response: These resources address the diagnosis or management of Hermansky-Pudlak syndrome: - Gene Review: Gene Review: Hermansky-Pudlak Syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome 1 - Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) asphyxiating thoracic dystrophy ? ### Response: Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) asphyxiating thoracic dystrophy ? ### Response: Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to asphyxiating thoracic dystrophy ? ### Response: Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is asphyxiating thoracic dystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for asphyxiating thoracic dystrophy ? ### Response: These resources address the diagnosis or management of asphyxiating thoracic dystrophy: - Genetic Testing Registry: Asphyxiating thoracic dystrophy 2 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 - Genetic Testing Registry: Asphyxiating t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Joubert syndrome ? ### Response: Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Joubert syndrome ? ### Response: Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Joubert syndrome ? ### Response: Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. " "Below is an instruction from Human. Write a response. ### Instruction: Is Joubert syndrome inherited ? ### Response: Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Joubert syndrome ? ### Response: These resources address the diagnosis or management of Joubert syndrome: - Gene Review: Gene Review: Joubert Syndrome and Related Disorders - Genetic Testing Registry: Familial aplasia of the vermis - Genetic Testing Registry: Joubert syndrome 10 - Gene " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neurofibromatosis type 1 ? ### Response: Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neurofibromatosis type 1 ? ### Response: Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neurofibromatosis type 1 ? ### Response: Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). " "Below is an instruction from Human. Write a response. ### Instruction: Is neurofibromatosis type 1 inherited ? ### Response: Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neurofibromatosis type 1 ? ### Response: These resources address the diagnosis or management of neurofibromatosis type 1: - Gene Review: Gene Review: Neurofibromatosis 1 - Genetic Testing Registry: Neurofibromatosis, type 1 - MedlinePlus Encyclopedia: Neurofibromatosis-1 These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenosine deaminase deficiency ? ### Response: Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adenosine deaminase deficiency ? ### Response: Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adenosine deaminase deficiency ? ### Response: Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. " "Below is an instruction from Human. Write a response. ### Instruction: Is adenosine deaminase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adenosine deaminase deficiency ? ### Response: These resources address the diagnosis or management of ADA deficiency: - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: Adenosine Deaminase D " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myotonic dystrophy ? ### Response: Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by myotonic dystrophy ? ### Response: Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myotonic dystrophy ? ### Response: Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is myotonic dystrophy inherited ? ### Response: Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myotonic dystrophy ? ### Response: These resources address the diagnosis or management of myotonic dystrophy: - Gene Review: Gene Review: Myotonic Dystrophy Type 1 - Gene Review: Gene Review: Myotonic Dystrophy Type 2 - Genetic Testing Registry: Myotonic dystrophy type 2 - Genetic Testin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pol III-related leukodystrophy ? ### Response: Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Pol III-related leukodystrophy ? ### Response: Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pol III-related leukodystrophy ? ### Response: Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pol III-related leukodystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pol III-related leukodystrophy ? ### Response: These resources address the diagnosis or management of Pol III-related leukodystrophy: - Eastman Dental Hospital: Hypodontia Clinic - Gene Review: Gene Review: Pol III-Related Leukodystrophies - Genetic Testing Registry: Pol III-related leukodystrophy - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Legius syndrome ? ### Response: Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Legius syndrome ? ### Response: Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Legius syndrome ? ### Response: Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Legius syndrome ? ### Response: Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Legius syndrome ? ### Response: These resources address the diagnosis or management of Legius syndrome: - Children's Tumor Foundation: NF1 or Legius Syndrome--An Emerging Challenge of Clinical Diagnosis - Gene Review: Gene Review: Legius Syndrome - Genetic Testing Registry: Legius synd " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Perrault syndrome ? ### Response: Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Perrault syndrome ? ### Response: Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Perrault syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Perrault syndrome ? ### Response: These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hepatic veno-occlusive disease with immunodeficiency ? ### Response: Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hepatic veno-occlusive disease with immunodeficiency ? ### Response: VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ? ### Response: VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria). " "Below is an instruction from Human. Write a response. ### Instruction: Is hepatic veno-occlusive disease with immunodeficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hepatic veno-occlusive disease with immunodeficiency ? ### Response: These resources address the diagnosis or management of VODI: - Gene Review: Gene Review: Hepatic Veno-Occlusive Disease with Immunodeficiency - Genetic Testing Registry: Hepatic venoocclusive disease with immunodeficiency These resources from MedlinePlu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arrhythmogenic right ventricular cardiomyopathy ? ### Response: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arrhythmogenic right ventricular cardiomyopathy ? ### Response: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to arrhythmogenic right ventricular cardiomyopathy ? ### Response: ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is arrhythmogenic right ventricular cardiomyopathy inherited ? ### Response: Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dihydropyrimidinase deficiency ? ### Response: Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dihydropyrimidinase deficiency ? ### Response: Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dihydropyrimidinase deficiency ? ### Response: Dihydropyrimidinase deficiency is caused by mutations in the DPYS gene, which provides instructions for making an enzyme called dihydropyrimidinase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is dihydropyrimidinase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dihydropyrimidinase deficiency ? ### Response: These resources address the diagnosis or management of dihydropyrimidinase deficiency: - Genetic Testing Registry: Dihydropyrimidinase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health cond " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MYH9-related disorder ? ### Response: MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MYH9-related disorder ? ### Response: MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to MYH9-related disorder ? ### Response: MYH9-related disorder is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (subunit) of the myosin IIA protein. There are three forms of myosin II, called myosin IIA, myosin IIB and myosin IIC. " "Below is an instruction from Human. Write a response. ### Instruction: Is MYH9-related disorder inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Approximately 30 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MYH9-related disorder ? ### Response: These resources address the diagnosis or management of MYH9-related disorder: - Gene Review: Gene Review: MYH9-Related Disorders - Genetic Testing Registry: Epstein syndrome - Genetic Testing Registry: Fechtner syndrome - Genetic Testing Registry: Macro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ellis-van Creveld syndrome ? ### Response: Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Ellis-van Creveld syndrome ? ### Response: In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ellis-van Creveld syndrome ? ### Response: Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the Sonic Hedgehog signaling pathway. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ellis-van Creveld syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ellis-van Creveld syndrome ? ### Response: These resources address the diagnosis or management of Ellis-van Creveld syndrome: - Genetic Testing Registry: Chondroectodermal dysplasia - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome - Medl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lennox-Gastaut syndrome ? ### Response: Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lennox-Gastaut syndrome ? ### Response: Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lennox-Gastaut syndrome ? ### Response: Researchers have not identified any genes specific to Lennox-Gastaut syndrome, although the disorder likely has a genetic component. About two-thirds of cases are described as symptomatic, which means that they are related to an existing neurological problem. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lennox-Gastaut syndrome inherited ? ### Response: Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than people with the symptomatic form to have a family history of epilepsy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lennox-Gastaut syndrome ? ### Response: These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Severe Form of Epilepsy (U. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic aplasia cutis congenita ? ### Response: Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic aplasia cutis congenita ? ### Response: Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nonsyndromic aplasia cutis congenita ? ### Response: Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. " "Below is an instruction from Human. Write a response. ### Instruction: Is nonsyndromic aplasia cutis congenita inherited ? ### Response: Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nonsyndromic aplasia cutis congenita ? ### Response: These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita: - Genetic Testing Registry: Aplasia cutis congenita These resources from MedlinePlus offer information about the diagnosis and management of various health condi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DOORS syndrome ? ### Response: DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). ""DOORS"" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DOORS syndrome ? ### Response: DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). ""DOORS"" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to DOORS syndrome ? ### Response: DOORS syndrome can be caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport) of vesicles, which are small sac-like structures that transport proteins and other materials within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is DOORS syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for DOORS syndrome ? ### Response: These resources address the diagnosis or management of DOORS syndrome: - Gene Review: Gene Review: TBC1D24-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arts syndrome ? ### Response: Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arts syndrome ? ### Response: Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Arts syndrome ? ### Response: Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is Arts syndrome inherited ? ### Response: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arts syndrome ? ### Response: These resources address the diagnosis or management of Arts syndrome: - Gene Review: Gene Review: Arts Syndrome - Genetic Testing Registry: Arts syndrome - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated - Med " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) triple A syndrome ? ### Response: Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) triple A syndrome ? ### Response: Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to triple A syndrome ? ### Response: Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is triple A syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for triple A syndrome ? ### Response: These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ichthyosis with confetti ? ### Response: Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ichthyosis with confetti ? ### Response: Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ichthyosis with confetti ? ### Response: Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. " "Below is an instruction from Human. Write a response. ### Instruction: Is ichthyosis with confetti inherited ? ### Response: Ichthyosis with confetti is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Usually, the condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ichthyosis with confetti ? ### Response: These resources address the diagnosis or management of ichthyosis with confetti: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis These resources f " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital leptin deficiency ? ### Response: Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital leptin deficiency ? ### Response: Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital leptin deficiency ? ### Response: Congenital leptin deficiency is caused by mutations in the LEP gene. This gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital leptin deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital leptin deficiency ? ### Response: These resources address the diagnosis or management of congenital leptin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Obesity, severe, " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) erythromelalgia ? ### Response: Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) erythromelalgia ? ### Response: Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to erythromelalgia ? ### Response: Mutations in the SCN9A gene can cause erythromelalgia. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is erythromelalgia inherited ? ### Response: Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for erythromelalgia ? ### Response: These resources address the diagnosis or management of erythromelalgia: - Gene Review: Gene Review: SCN9A-Related Inherited Erythromelalgia - Genetic Testing Registry: Primary erythromelalgia These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glucose phosphate isomerase deficiency ? ### Response: Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glucose phosphate isomerase deficiency ? ### Response: Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glucose phosphate isomerase deficiency ? ### Response: GPI deficiency is caused by mutations in the GPI gene, which provides instructions for making an enzyme called glucose phosphate isomerase (GPI). This enzyme has two distinct functions based on its structure. When two GPI molecules form a complex (a homodimer), the enzyme plays a role in a critical energy-producing process known as glycolysis, also called the glycolytic pathway. " "Below is an instruction from Human. Write a response. ### Instruction: Is glucose phosphate isomerase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glucose phosphate isomerase deficiency ? ### Response: These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - Nationa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glucose-6-phosphate dehydrogenase deficiency ? ### Response: Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by glucose-6-phosphate dehydrogenase deficiency ? ### Response: An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African American males in the United States. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glucose-6-phosphate dehydrogenase deficiency ? ### Response: Mutations in the G6PD gene cause glucose-6-phosphate dehydrogenase deficiency. The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is involved in the normal processing of carbohydrates. It also protects red blood cells from the effects of potentially harmful molecules called reactive oxygen species. " "Below is an instruction from Human. Write a response. ### Instruction: Is glucose-6-phosphate dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glucose-6-phosphate dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Glucose 6 phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenas " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) North American Indian childhood cirrhosis ? ### Response: North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) North American Indian childhood cirrhosis ? ### Response: North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to North American Indian childhood cirrhosis ? ### Response: North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. " "Below is an instruction from Human. Write a response. ### Instruction: Is North American Indian childhood cirrhosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for North American Indian childhood cirrhosis ? ### Response: These resources address the diagnosis or management of North American Indian childhood cirrhosis: - Children's Organ Transplant Association - Genetic Testing Registry: North american indian childhood cirrhosis These resources from MedlinePlus offer info " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) factor XIII deficiency ? ### Response: Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime. Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by factor XIII deficiency ? ### Response: Inherited factor XIII deficiency affects 1 to 3 per million people worldwide. Researchers suspect that mild factor XIII deficiency, including the acquired form of the disorder, is underdiagnosed because many affected people never have a major episode of abnormal bleeding that would lead to a diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to factor XIII deficiency ? ### Response: Inherited factor XIII deficiency results from mutations in the F13A1 gene or, less commonly, the F13B gene. These genes provide instructions for making the two parts (subunits) of a protein called factor XIII. This protein plays a critical role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. " "Below is an instruction from Human. Write a response. ### Instruction: Is factor XIII deficiency inherited ? ### Response: Inherited factor XIII deficiency is considered to have an autosomal recessive pattern of inheritance, which means that it results when both copies of either the F13A1 gene or the F13B gene in each cell have mutations. Some people, including parents of individuals with factor XIII deficiency, carry a single mutated copy of the F13A1 or F13B gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for factor XIII deficiency ? ### Response: These resources address the diagnosis or management of factor XIII deficiency: - Genetic Testing Registry: Factor xiii, a subunit, deficiency of - Genetic Testing Registry: Factor xiii, b subunit, deficiency of These resources from MedlinePlus offer inf " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cryptogenic cirrhosis ? ### Response: Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cryptogenic cirrhosis ? ### Response: Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cryptogenic cirrhosis ? ### Response: Unlike most cases of cirrhosis, cryptogenic cirrhosis is not caused by the hepatitis C or B virus or chronic alcohol use. A diagnosis of cryptogenic cirrhosis is typically given when all other causes of cirrhosis have been ruled out. When a disorder occurs without an apparent underlying reason, it is described as cryptogenic. " "Below is an instruction from Human. Write a response. ### Instruction: Is cryptogenic cirrhosis inherited ? ### Response: Most cases of cryptogenic cirrhosis are not inherited. However, people with a family history of liver disease or autoimmune disease are at an increased risk of developing these diseases themselves, and possibly cirrhosis. In individuals with an associated keratin gene mutation, the risk of developing cryptogenic cirrhosis appears to have an autosomal dominant pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cryptogenic cirrhosis ? ### Response: These resources address the diagnosis or management of cryptogenic cirrhosis: - Children's Hospital of Pittsburgh: Cirrhosis - Cleveland Clinic: Cirrhosis of the Liver - Genetic Testing Registry: Cirrhosis, cryptogenic - Genetic Testing Registry: Famili " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) medullary cystic kidney disease type 1 ? ### Response: Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) medullary cystic kidney disease type 1 ? ### Response: Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to medullary cystic kidney disease type 1 ? ### Response: MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and protects them from foreign invaders and other particles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to medullary cystic kidney disease type 1 ? ### Response: MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and protects them from foreign invaders and other particles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for medullary cystic kidney disease type 1 ? ### Response: These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gilbert syndrome ? ### Response: Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gilbert syndrome ? ### Response: Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Gilbert syndrome ? ### Response: Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gilbert syndrome inherited ? ### Response: Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gilbert syndrome ? ### Response: These resources address the diagnosis or management of Gilbert syndrome: - Genetic Testing Registry: Gilbert's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type IX ? ### Response: Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type IX ? ### Response: Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type IX ? ### Response: Mutations in the PHKA1, PHKA2, PHKB, or PHKG2 genes are known to cause GSD IX. These genes provide instructions for making pieces (subunits) of an enzyme called phosphorylase b kinase. The enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type IX inherited ? ### Response: GSD IX can have different inheritance patterns depending on the genetic cause of the condition. When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type IX ? ### Response: These resources address the diagnosis or management of glycogen storage disease type IX: - Gene Review: Gene Review: Phosphorylase Kinase Deficiency - Genetic Testing Registry: Glycogen storage disease IXb - Genetic Testing Registry: Glycogen storage dis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic holoprosencephaly ? ### Response: Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic holoprosencephaly ? ### Response: Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. " "Below is an instruction from Human. Write a response. ### Instruction: Is nonsyndromic holoprosencephaly inherited ? ### Response: Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nonsyndromic holoprosencephaly ? ### Response: These resources address the diagnosis or management of nonsyndromic holoprosencephaly: - Gene Review: Gene Review: Holoprosencephaly Overview - Genetic Testing Registry: Holoprosencephaly 1 - Genetic Testing Registry: Holoprosencephaly 10 - Genetic Test " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) succinic semialdehyde dehydrogenase deficiency ? ### Response: Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) succinic semialdehyde dehydrogenase deficiency ? ### Response: Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ? ### Response: Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). " "Below is an instruction from Human. Write a response. ### Instruction: Is succinic semialdehyde dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for succinic semialdehyde dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of succinic semialdehyde dehydrogenase deficiency: - Gene Review: Gene Review: Succinic Semialdehyde Dehydrogenase Deficiency - Genetic Testing Registry: Succinate-semialdehyde dehydrogenase deficiency " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial erythrocytosis ? ### Response: Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial erythrocytosis ? ### Response: Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial erythrocytosis inherited ? ### Response: Familial erythrocytosis can have different inheritance patterns depending on the gene involved. When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial erythrocytosis ? ### Response: These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Gen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant congenital stationary night blindness ? ### Response: Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant congenital stationary night blindness ? ### Response: Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant congenital stationary night blindness ? ### Response: Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant congenital stationary night blindness ? ### Response: Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal dominant congenital stationary night blindness ? ### Response: These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Romano-Ward syndrome ? ### Response: Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Romano-Ward syndrome ? ### Response: Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Romano-Ward syndrome ? ### Response: Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Romano-Ward syndrome inherited ? ### Response: This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes described above. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Romano-Ward syndrome ? ### Response: These resources address the diagnosis or management of Romano-Ward syndrome: - Gene Review: Gene Review: Long QT Syndrome - Genetic Testing Registry: Long QT syndrome 1 - Genetic Testing Registry: Romano-Ward syndrome - MedlinePlus Encyclopedia: Arrhyth " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Timothy syndrome ? ### Response: Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Timothy syndrome ? ### Response: Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Timothy syndrome ? ### Response: Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Timothy syndrome inherited ? ### Response: This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Timothy syndrome ? ### Response: These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disea " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoglycerate kinase deficiency ? ### Response: Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoglycerate kinase deficiency ? ### Response: Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to phosphoglycerate kinase deficiency ? ### Response: Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is phosphoglycerate kinase deficiency inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for phosphoglycerate kinase deficiency ? ### Response: These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kina " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fumarase deficiency ? ### Response: Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fumarase deficiency ? ### Response: Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fumarase deficiency ? ### Response: The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is fumarase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fumarase deficiency ? ### Response: These resources address the diagnosis or management of fumarase deficiency: - Gene Review: Gene Review: Fumarate Hydratase Deficiency - Genetic Testing Registry: Fumarase deficiency These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-methylglutaconyl-CoA hydratase deficiency ? ### Response: 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-methylglutaconyl-CoA hydratase deficiency ? ### Response: 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ? ### Response: Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-methylglutaconyl-CoA hydratase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-methylglutaconyl-CoA hydratase deficiency ? ### Response: These resources address the diagnosis or management of 3-methylglutaconyl-CoA hydratase deficiency: - Baby's First Test - Genetic Testing Registry: 3-Methylglutaconic aciduria - MedlinePlus Encyclopedia: Metabolic Acidosis These resources from MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fragile X-associated tremor/ataxia syndrome ? ### Response: Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by fragile X-associated tremor/ataxia syndrome ? ### Response: Studies show that approximately 1 in 450 males has the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop signs and symptoms of FXTAS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fragile X-associated tremor/ataxia syndrome ? ### Response: Mutations in the FMR1 gene increase the risk of developing FXTAS. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. FMRP plays a role in the development of synapses, which are specialized connections between nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is fragile X-associated tremor/ataxia syndrome inherited ? ### Response: An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXTAS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fragile X-associated tremor/ataxia syndrome ? ### Response: These resources address the diagnosis or management of FXTAS: - Fragile X Research Foundation of Canada: FXTAS - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Fragile X tremor/ataxia syndrome - Merck Manual Consumer Versio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Perry syndrome ? ### Response: Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Perry syndrome ? ### Response: Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Perry syndrome ? ### Response: Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. " "Below is an instruction from Human. Write a response. ### Instruction: Is Perry syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Perry syndrome ? ### Response: These resources address the diagnosis or management of Perry syndrome: - Gene Review: Gene Review: Perry Syndrome - Genetic Testing Registry: Perry syndrome - MedlinePlus Encyclopedia: Major Depression - MedlinePlus Encyclopedia: Primary Alveolar Hypove " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) von Hippel-Lindau syndrome ? ### Response: Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) von Hippel-Lindau syndrome ? ### Response: Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to von Hippel-Lindau syndrome ? ### Response: Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is von Hippel-Lindau syndrome inherited ? ### Response: Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for von Hippel-Lindau syndrome ? ### Response: These resources address the diagnosis or management of von Hippel-Lindau syndrome: - Brigham and Women's Hospital - Gene Review: Gene Review: Von Hippel-Lindau Syndrome - Genetic Testing Registry: Von Hippel-Lindau syndrome - Genomics Education Programm " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebrotendinous xanthomatosis ? ### Response: Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebrotendinous xanthomatosis ? ### Response: Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cerebrotendinous xanthomatosis ? ### Response: Mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis. The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme works in the pathway that breaks down cholesterol to form acids used in the digestion of fats (bile acids). " "Below is an instruction from Human. Write a response. ### Instruction: Is cerebrotendinous xanthomatosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cerebrotendinous xanthomatosis ? ### Response: These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lymphedema-distichiasis syndrome ? ### Response: Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lymphedema-distichiasis syndrome ? ### Response: Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lymphedema-distichiasis syndrome ? ### Response: Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lymphedema-distichiasis syndrome ? ### Response: Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lymphedema-distichiasis syndrome ? ### Response: These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jacobsen syndrome ? ### Response: Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jacobsen syndrome ? ### Response: Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Jacobsen syndrome ? ### Response: Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). " "Below is an instruction from Human. Write a response. ### Instruction: Is Jacobsen syndrome inherited ? ### Response: Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Jacobsen syndrome ? ### Response: These resources address the diagnosis or management of Jacobsen syndrome: - 11q Research & Resource Group: Concerns and Recommendations - Genetic Testing Registry: 11q partial monosomy syndrome - Unique: Chromosome 11q Deletion Disorder: Jacobsen Syndrom " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mainzer-Saldino syndrome ? ### Response: Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually leads to kidney failure in most affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mainzer-Saldino syndrome ? ### Response: Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually leads to kidney failure in most affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Mainzer-Saldino syndrome ? ### Response: Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that transmit information within and between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mainzer-Saldino syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mainzer-Saldino syndrome ? ### Response: These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Angelman syndrome ? ### Response: Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Angelman syndrome ? ### Response: Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Angelman syndrome ? ### Response: Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is Angelman syndrome inherited ? ### Response: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Angelman syndrome ? ### Response: These resources address the diagnosis or management of Angelman syndrome: - Gene Review: Gene Review: Angelman Syndrome - Genetic Testing Registry: Angelman syndrome - MedlinePlus Encyclopedia: Speech Disorders These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type I ? ### Response: Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type I ? ### Response: Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucopolysaccharidosis type I ? ### Response: Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucopolysaccharidosis type I inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucopolysaccharidosis type I ? ### Response: These resources address the diagnosis or management of mucopolysaccharidosis type I: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type I - Genetic Testing Registry: Mucopolysaccharidosis type I - MedlinePlus Encyclopedia: Hurler " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: Mutations in the CHRNA2, CHRNA4, and CHRNB2 genes can cause ADNFLE. These genes provide instructions for making different parts (subunits) of a larger molecule called a neuronal nicotinic acetylcholine receptor (nAChR). This receptor plays an important role in chemical signaling between nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal dominant nocturnal frontal lobe epilepsy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to raise the risk of developing epilepsy. About 70 percent of people who inherit a mutation in the CHRNA2, CHRNA4, or CHRNB2 gene will develop seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: These resources address the diagnosis or management of ADNFLE: - Gene Review: Gene Review: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 1 - Genetic Testing Registry: Epilepsy, noctu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ocular albinism ? ### Response: Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ocular albinism ? ### Response: Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ocular albinism ? ### Response: Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. " "Below is an instruction from Human. Write a response. ### Instruction: Is ocular albinism inherited ? ### Response: Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ocular albinism ? ### Response: These resources address the diagnosis or management of ocular albinism: - Gene Review: Gene Review: Ocular Albinism, X-Linked - Genetic Testing Registry: Albinism ocular late onset sensorineural deafness - Genetic Testing Registry: Albinism, ocular, with " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary leiomyomatosis and renal cell cancer ? ### Response: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary leiomyomatosis and renal cell cancer ? ### Response: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary leiomyomatosis and renal cell cancer ? ### Response: Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary leiomyomatosis and renal cell cancer ? ### Response: Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary leiomyomatosis and renal cell cancer ? ### Response: These resources address the diagnosis or management of HLRCC: - Gene Review: Gene Review: Hereditary Leiomyomatosis and Renal Cell Cancer - Genetic Testing Registry: Hereditary leiomyomatosis and renal cell cancer - MedlinePlus Encyclopedia: Renal Cell C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gray platelet syndrome ? ### Response: Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gray platelet syndrome ? ### Response: Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to gray platelet syndrome ? ### Response: Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound healing. " "Below is an instruction from Human. Write a response. ### Instruction: Is gray platelet syndrome inherited ? ### Response: When gray platelet syndrome is caused by NBEAL2 gene mutations, it has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for gray platelet syndrome ? ### Response: These resources address the diagnosis or management of gray platelet syndrome: - Genetic Testing Registry: Gray platelet syndrome - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer informat " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rothmund-Thomson syndrome ? ### Response: Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rothmund-Thomson syndrome ? ### Response: Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Rothmund-Thomson syndrome ? ### Response: Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. " "Below is an instruction from Human. Write a response. ### Instruction: Is Rothmund-Thomson syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rothmund-Thomson syndrome ? ### Response: These resources address the diagnosis or management of Rothmund-Thomson syndrome: - Gene Review: Gene Review: Rothmund-Thomson Syndrome - Genetic Testing Registry: Rothmund-Thomson syndrome - MedlinePlus Encyclopedia: Cataract - MedlinePlus Encyclopedia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial exudative vitreoretinopathy ? ### Response: Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial exudative vitreoretinopathy ? ### Response: Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial exudative vitreoretinopathy inherited ? ### Response: Familial exudative vitreoretinopathy has different inheritance patterns depending on the gene involved. Most commonly, the condition results from mutations in the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial exudative vitreoretinopathy ? ### Response: These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondyloperipheral dysplasia ? ### Response: Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloperipheral dysplasia ? ### Response: Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondyloperipheral dysplasia ? ### Response: Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spondyloperipheral dysplasia ? ### Response: These resources address the diagnosis or management of spondyloperipheral dysplasia: - Genetic Testing Registry: Spondyloperipheral dysplasia - MedlinePlus Encyclopedia: Nearsightedness These resources from MedlinePlus offer information about the diagno " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ? ### Response: Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ? ### Response: Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to platyspondylic lethal skeletal dysplasia, Torrance type ? ### Response: Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to platyspondylic lethal skeletal dysplasia, Torrance type ? ### Response: Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for platyspondylic lethal skeletal dysplasia, Torrance type ? ### Response: These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type: - Genetic Testing Registry: Platyspondylic lethal skeletal dysplasia Torrance type - MedlinePlus Encyclopedia: Lordosis These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Allan-Herndon-Dudley syndrome ? ### Response: Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Allan-Herndon-Dudley syndrome ? ### Response: Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Allan-Herndon-Dudley syndrome ? ### Response: Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a particular hormone into nerve cells in the developing brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Allan-Herndon-Dudley syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Allan-Herndon-Dudley syndrome ? ### Response: These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus E " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) triosephosphate isomerase deficiency ? ### Response: Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) triosephosphate isomerase deficiency ? ### Response: Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to triosephosphate isomerase deficiency ? ### Response: Mutations in the TPI1 gene cause triosephosphate isomerase deficiency. This gene provides instructions for making an enzyme called triosephosphate isomerase 1. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy for cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is triosephosphate isomerase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for triosephosphate isomerase deficiency ? ### Response: These resources address the diagnosis or management of triosephosphate isomerase deficiency: - Genetic Testing Registry: Triosephosphate isomerase deficiency - MedlinePlus Encyclopedia: Hemolytic Anemia - National Heart, Lung, and Blood Institute: How is " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Clouston syndrome ? ### Response: Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Clouston syndrome ? ### Response: Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Clouston syndrome ? ### Response: Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Clouston syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Clouston syndrome ? ### Response: These resources address the diagnosis or management of Clouston syndrome: - Gene Review: Gene Review: Hidrotic Ectodermal Dysplasia 2 - Genetic Testing Registry: Hidrotic ectodermal dysplasia syndrome These resources from MedlinePlus offer information a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hypertrophic cardiomyopathy ? ### Response: Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hypertrophic cardiomyopathy ? ### Response: Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). " "Below is an instruction from Human. Write a response. ### Instruction: Is familial hypertrophic cardiomyopathy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms. In most cases, an affected person has one parent with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial hypertrophic cardiomyopathy ? ### Response: These resources address the diagnosis or management of familial hypertrophic cardiomyopathy: - Cleveland Clinic - Gene Review: Gene Review: Hypertrophic Cardiomyopathy Overview - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 1 - Genetic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) keratitis-ichthyosis-deafness syndrome ? ### Response: Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. " "Below is an instruction from Human. Write a response. ### Instruction: Is keratitis-ichthyosis-deafness syndrome inherited ? ### Response: KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for keratitis-ichthyosis-deafness syndrome ? ### Response: These resources address the diagnosis or management of keratitis-ichthyosis-deafness syndrome: - Genetic Testing Registry: Autosomal recessive keratitis-ichthyosis-deafness syndrome - Genetic Testing Registry: Keratitis-ichthyosis-deafness syndrome, autos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 7q11.23 duplication syndrome ? ### Response: 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11.23 duplication syndrome typically have delayed development of speech and delayed motor skills such as crawling and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 7q11.23 duplication syndrome ? ### Response: 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11.23 duplication syndrome typically have delayed development of speech and delayed motor skills such as crawling and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 7q11.23 duplication syndrome ? ### Response: 7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is 7q11.23 duplication syndrome inherited ? ### Response: 7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 7q11.23 duplication syndrome ? ### Response: These resources address the diagnosis or management of 7q11.23 duplication syndrome: - Cardiff University (United Kingdom): Copy Number Variant Research - Gene Review: Gene Review: 7q11.23 Duplication Syndrome - Genetic Testing Registry: Williams-Beuren region duplication syndrome - University of Antwerp (Belgium): 7q11. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q13.3 deletion syndrome ? ### Response: 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q13.3 deletion syndrome ? ### Response: 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 22q13.3 deletion syndrome ? ### Response: 22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is 22q13.3 deletion syndrome inherited ? ### Response: Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 22q13.3 deletion syndrome ? ### Response: These resources address the diagnosis or management of 22q13.3 deletion syndrome: - Gene Review: Gene Review: Phelan-McDermid Syndrome - Genetic Testing Registry: 22q13.3 deletion syndrome - MedlinePlus Encyclopedia: Sweating--absent These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ALG6-congenital disorder of glycosylation ? ### Response: ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ALG6-congenital disorder of glycosylation ? ### Response: ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ALG6-congenital disorder of glycosylation ? ### Response: ALG6-CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. Glycosylation is the process by which sugar molecules (monosaccharides) and complex chains of sugar molecules (oligosaccharides) are added to proteins and fats. " "Below is an instruction from Human. Write a response. ### Instruction: Is ALG6-congenital disorder of glycosylation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ALG6-congenital disorder of glycosylation ? ### Response: These resources address the diagnosis or management of ALG6-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sialuria ? ### Response: Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sialuria ? ### Response: Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sialuria ? ### Response: Mutations in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is sialuria inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most reported cases have occurred in people with no known history of the disorder in their family and may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sialuria ? ### Response: These resources address the diagnosis or management of sialuria: - Gene Review: Gene Review: Sialuria - Genetic Testing Registry: Sialuria - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Newborn Jaundice These resour " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schindler disease ? ### Response: Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schindler disease ? ### Response: Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Schindler disease ? ### Response: Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycoproteins and glycolipids, which consist of sugar molecules attached to certain proteins and fats. " "Below is an instruction from Human. Write a response. ### Instruction: Is Schindler disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schindler disease ? ### Response: These resources address the diagnosis or management of Schindler disease: - Genetic Testing Registry: Kanzaki disease - Genetic Testing Registry: Schindler disease, type 1 These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lynch syndrome ? ### Response: Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lynch syndrome ? ### Response: Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lynch syndrome ? ### Response: Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). " "Below is an instruction from Human. Write a response. ### Instruction: Is Lynch syndrome inherited ? ### Response: Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lynch syndrome ? ### Response: These resources address the diagnosis or management of Lynch syndrome: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gaucher disease ? ### Response: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Gaucher disease ? ### Response: Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Gaucher disease ? ### Response: Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). " "Below is an instruction from Human. Write a response. ### Instruction: Is Gaucher disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gaucher disease ? ### Response: These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cockayne syndrome ? ### Response: Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cockayne syndrome ? ### Response: Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cockayne syndrome ? ### Response: Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cockayne syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cockayne syndrome ? ### Response: These resources address the diagnosis or management of Cockayne syndrome: - Gene Review: Gene Review: Cockayne Syndrome - Genetic Testing Registry: Cockayne syndrome - Genetic Testing Registry: Cockayne syndrome type A - Genetic Testing Registry: Cockay " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) actin-accumulation myopathy ? ### Response: Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) actin-accumulation myopathy ? ### Response: Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to actin-accumulation myopathy ? ### Response: Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). " "Below is an instruction from Human. Write a response. ### Instruction: Is actin-accumulation myopathy inherited ? ### Response: Actin-accumulation myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for actin-accumulation myopathy ? ### Response: These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hirschsprung disease ? ### Response: Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hirschsprung disease ? ### Response: Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Hirschsprung disease ? ### Response: Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hirschsprung disease inherited ? ### Response: Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families. Hirschsprung disease appears to have a dominant pattern of inheritance, which means one copy of the altered gene in each cell may be sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hirschsprung disease ? ### Response: These resources address the diagnosis or management of Hirschsprung disease: - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis) - Gene Review: Gene Review: Hirschsprung Disease Overview - Genetic Testing Registry: Hirschsprung diseas " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fragile X syndrome ? ### Response: Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fragile X syndrome ? ### Response: Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fragile X syndrome ? ### Response: Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is fragile X syndrome inherited ? ### Response: Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fragile X syndrome ? ### Response: These resources address the diagnosis or management of fragile X syndrome: - Gene Review: Gene Review: FMR1-Related Disorders - GeneFacts: Fragile X Syndrome: Diagnosis - GeneFacts: Fragile X Syndrome: Management - Genetic Testing Registry: Fragile X sy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ZAP70-related severe combined immunodeficiency ? ### Response: ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ZAP70-related severe combined immunodeficiency ? ### Response: ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ZAP70-related severe combined immunodeficiency ? ### Response: As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is ZAP70-related severe combined immunodeficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ZAP70-related severe combined immunodeficiency ? ### Response: These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cant syndrome ? ### Response: Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cant syndrome ? ### Response: Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cant syndrome ? ### Response: Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open when it should be closed. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cant syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cant syndrome ? ### Response: These resources address the diagnosis or management of Cant syndrome: - Gene Review: Gene Review: Cant syndrome - Genetic Testing Registry: Hypertrichotic osteochondrodysplasia These resources from MedlinePlus offer information about the diagnosis and m " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Russell-Silver syndrome ? ### Response: Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Russell-Silver syndrome ? ### Response: Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Russell-Silver syndrome ? ### Response: The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. People normally inherit one copy of each chromosome from their mother and one copy from their father. " "Below is an instruction from Human. Write a response. ### Instruction: Is Russell-Silver syndrome inherited ? ### Response: Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Russell-Silver syndrome ? ### Response: These resources address the diagnosis or management of Russell-Silver syndrome: - Gene Review: Gene Review: Russell-Silver Syndrome - Genetic Testing Registry: Russell-Silver syndrome - MedlinePlus Encyclopedia: Russell-Silver syndrome These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hennekam syndrome ? ### Response: Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hennekam syndrome ? ### Response: Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hennekam syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hennekam syndrome ? ### Response: These resources address the diagnosis or management of Hennekam syndrome: - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information - Johns Hopkins Medicine: Lymphedema Management - VascularWeb: Lymphedema These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) eosinophil peroxidase deficiency ? ### Response: Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by eosinophil peroxidase deficiency ? ### Response: Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to eosinophil peroxidase deficiency ? ### Response: Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and parasites. " "Below is an instruction from Human. Write a response. ### Instruction: Is eosinophil peroxidase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for eosinophil peroxidase deficiency ? ### Response: These resources address the diagnosis or management of eosinophil peroxidase deficiency: - Genetic Testing Registry: Eosinophil peroxidase deficiency - Tulane University Eosinophilic Disorder Center These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Friedreich ataxia ? ### Response: Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Friedreich ataxia ? ### Response: Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Friedreich ataxia ? ### Response: Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Friedreich ataxia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Friedreich ataxia ? ### Response: These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meesmann corneal dystrophy ? ### Response: Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Meesmann corneal dystrophy ? ### Response: Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Meesmann corneal dystrophy ? ### Response: Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Meesmann corneal dystrophy ? ### Response: Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meesmann corneal dystrophy ? ### Response: These resources address the diagnosis or management of Meesmann corneal dystrophy: - Genetic Testing Registry: Meesman's corneal dystrophy - Merck Manual Home Health Handbook: Tests for Eye Disorders: The Eye Examination These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) factor X deficiency ? ### Response: Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) factor X deficiency ? ### Response: Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to factor X deficiency ? ### Response: The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. " "Below is an instruction from Human. Write a response. ### Instruction: Is factor X deficiency inherited ? ### Response: When this condition is caused by mutations in the F10 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for factor X deficiency ? ### Response: These resources address the diagnosis or management of factor X deficiency: - Genetic Testing Registry: Factor X deficiency - MedlinePlus Encyclopedia: Factor X Assay These resources from MedlinePlus offer information about the diagnosis and management " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Senior-Lken syndrome ? ### Response: Senior-Lken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Senior-Lken syndrome ? ### Response: Senior-Lken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Senior-Lken syndrome ? ### Response: Senior-Lken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Senior-Lken syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Senior-Lken syndrome ? ### Response: These resources address the diagnosis or management of Senior-Lken syndrome: - Genetic Testing Registry: Senior-Loken syndrome 1 - Genetic Testing Registry: Senior-Loken syndrome 3 - Genetic Testing Registry: Senior-Loken syndrome 4 - Genetic Testing Re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary myelofibrosis ? ### Response: Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary myelofibrosis ? ### Response: Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary myelofibrosis ? ### Response: Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis. The JAK2 and MPL genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary myelofibrosis ? ### Response: These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) piebaldism ? ### Response: Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) piebaldism ? ### Response: Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to piebaldism ? ### Response: Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling within cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to piebaldism ? ### Response: Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling within cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for piebaldism ? ### Response: These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dru " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laron syndrome ? ### Response: Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laron syndrome ? ### Response: Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Laron syndrome ? ### Response: Laron syndrome is caused by mutations in the GHR gene. This gene provides instructions for making a protein called the growth hormone receptor. The receptor is present on the outer membrane of cells throughout the body, particularly liver cells. As its name suggests, the growth hormone receptor attaches (binds) to growth hormone; the two proteins fit together like a key in a lock. " "Below is an instruction from Human. Write a response. ### Instruction: Is Laron syndrome inherited ? ### Response: Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Laron syndrome ? ### Response: These resources address the diagnosis or management of Laron syndrome: - Children's Hospital of Pittsburgh: Growth Hormone Treatment - Cinncinati Children's Hospital Medical Center: Growth Hormone Therapy - Genetic Testing Registry: Laron-type isolated s " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 15 ? ### Response: Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 15 ? ### Response: Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spastic paraplegia type 15 ? ### Response: Mutations in the ZFYVE26 gene cause spastic paraplegia type 15. This gene provides instructions for making a protein called spastizin. This protein is important in a process called autophagy, in which worn-out cell parts and unneeded proteins are recycled within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 15 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 15 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 15: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Spastic Paraplegia Foundation, Inc: Treatments and Therapies These resources from MedlinePlus offer i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) vitamin D-dependent rickets ? ### Response: Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by vitamin D-dependent rickets ? ### Response: Rickets affects an estimated 1 in 200,000 children. The condition is most often caused by a lack of vitamin D in the diet or insufficient sun exposure rather than genetic mutations; genetic forms of rickets, including VDDR1 and VDDR2, are much less common. The prevalence of VDDR1 and VDDR2 is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to vitamin D-dependent rickets ? ### Response: The two types of vitamin D-dependent rickets have different genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved in the body's response to vitamin D, an important vitamin that can be can be acquired from foods in the diet or made by the body with the help of sunlight. " "Below is an instruction from Human. Write a response. ### Instruction: Is vitamin D-dependent rickets inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for vitamin D-dependent rickets ? ### Response: These resources address the diagnosis or management of vitamin D-dependent rickets: - Genetic Testing Registry: Vitamin D-dependent rickets, type 1 - Genetic Testing Registry: Vitamin D-dependent rickets, type 2 - Genetic Testing Registry: Vitamin d-depe " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 1q21.1 microdeletion ? ### Response: 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 1q21.1 microdeletion ? ### Response: 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 1q21.1 microdeletion ? ### Response: Most people with a 1q21.1 microdeletion are missing a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of chromosome 1. However, the exact size of the deleted region varies. This deletion affects one of the two copies of chromosome 1 in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is 1q21.1 microdeletion inherited ? ### Response: 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 1q21.1 microdeletion ? ### Response: These resources address the diagnosis or management of 1q21.1 microdeletion: - Gene Review: Gene Review: 1q21.1 Recurrent Microdeletion - Genetic Testing Registry: 1q21.1 recurrent microdeletion These resources from MedlinePlus offer information about t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive hyper-IgE syndrome ? ### Response: Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive hyper-IgE syndrome ? ### Response: Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive hyper-IgE syndrome ? ### Response: AR-HIES is usually caused by mutations in the DOCK8 gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the protein's functions is to help maintain the structure and integrity of immune cells called T cells and NK cells, which recognize and attack foreign invaders, particularly as these cells travel to sites of infection within the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive hyper-IgE syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive hyper-IgE syndrome ? ### Response: These resources address the diagnosis or management of autosomal recessive hyper-IgE syndrome: - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E Syndrome - Merck Manual Professional Version: Hype " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile neuronal ceroid lipofuscinosis ? ### Response: Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile neuronal ceroid lipofuscinosis ? ### Response: Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ? ### Response: Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. " "Below is an instruction from Human. Write a response. ### Instruction: Is infantile neuronal ceroid lipofuscinosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for infantile neuronal ceroid lipofuscinosis ? ### Response: These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis These resources from Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crigler-Najjar syndrome ? ### Response: Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Crigler-Najjar syndrome ? ### Response: Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Crigler-Najjar syndrome ? ### Response: Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crigler-Najjar syndrome ? ### Response: These resources address the diagnosis or management of Crigler-Najjar syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Genetic Testing Registry: Crigler Najjar syndrome, type 1 - Genetic Testing Registry: Cri " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) idiopathic inflammatory myopathy ? ### Response: Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by idiopathic inflammatory myopathy ? ### Response: The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to idiopathic inflammatory myopathy ? ### Response: Idiopathic inflammatory myopathy is thought to arise from a combination of genetic and environmental factors. The term ""idiopathic"" indicates that the specific cause of the disorder is unknown. Researchers have identified variations in several genes that may influence the risk of developing idiopathic inflammatory myopathy. " "Below is an instruction from Human. Write a response. ### Instruction: Is idiopathic inflammatory myopathy inherited ? ### Response: Most cases of idiopathic inflammatory myopathy are sporadic, which means they occur in people with no history of the disorder in their family. However, several people with idiopathic inflammatory myopathy have had close relatives with autoimmune disorders. Autoimmune diseases occur when the immune system malfunctions and attacks the body's tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for idiopathic inflammatory myopathy ? ### Response: These resources address the diagnosis or management of idiopathic inflammatory myopathy: - Genetic Testing Registry: Idiopathic myopathy - Genetic Testing Registry: Inclusion body myositis - Johns Hopkins Myositis Center: Diagnosis - Johns Hopkins Myosi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isobutyryl-CoA dehydrogenase deficiency ? ### Response: Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isobutyryl-CoA dehydrogenase deficiency ? ### Response: Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ? ### Response: Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. " "Below is an instruction from Human. Write a response. ### Instruction: Is isobutyryl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isobutyryl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resource " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 8 ? ### Response: Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 8 ? ### Response: Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 8 inherited ? ### Response: Spastic paraplegia type 8 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 8 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 8: - Gene Review: Gene Review: Spastic Paraplegia 8 - Genetic Testing Registry: Spastic paraplegia 8 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lamellar ichthyosis ? ### Response: Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lamellar ichthyosis ? ### Response: Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lamellar ichthyosis ? ### Response: Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections. " "Below is an instruction from Human. Write a response. ### Instruction: Is lamellar ichthyosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lamellar ichthyosis ? ### Response: These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Huntington disease ? ### Response: Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Huntington disease ? ### Response: Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Huntington disease ? ### Response: Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. " "Below is an instruction from Human. Write a response. ### Instruction: Is Huntington disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Huntington disease ? ### Response: These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Hunt " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dyserythropoietic anemia and thrombocytopenia ? ### Response: Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by dyserythropoietic anemia and thrombocytopenia ? ### Response: Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dyserythropoietic anemia and thrombocytopenia ? ### Response: Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: Is dyserythropoietic anemia and thrombocytopenia inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dyserythropoietic anemia and thrombocytopenia ? ### Response: These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia: - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis These r " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive pseudorheumatoid dysplasia ? ### Response: Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by progressive pseudorheumatoid dysplasia ? ### Response: PPRD has been estimated to occur in approximately 1 per million people in the United Kingdom. The condition is thought to be more common in Turkey and the Middle East, although its prevalence in these regions is unknown. The condition in all regions is likely underdiagnosed because it is often misdiagnosed as juvenile rheumatoid arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to progressive pseudorheumatoid dysplasia ? ### Response: PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: Is progressive pseudorheumatoid dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for progressive pseudorheumatoid dysplasia ? ### Response: These resources address the diagnosis or management of progressive pseudorheumatoid dysplasia: - Cedars-Sinai: Skeletal Dysplasias - Gene Review: Gene Review: Progressive Pseudorheumatoid Dysplasia - Genetic Testing Registry: Progressive pseudorheumatoid " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) rapid-onset dystonia parkinsonism ? ### Response: Rapid-onset dystonia parkinsonism is a rare movement disorder. ""Rapid-onset"" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to rapid-onset dystonia parkinsonism ? ### Response: Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is rapid-onset dystonia parkinsonism inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for rapid-onset dystonia parkinsonism ? ### Response: These resources address the diagnosis or management of rapid-onset dystonia parkinsonism: - Gene Review: Gene Review: Rapid-Onset Dystonia-Parkinsonism - Genetic Testing Registry: Dystonia 12 These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) breast cancer ? ### Response: Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by breast cancer ? ### Response: Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Researchers estimate that more than 230,000 new cases of invasive breast cancer will be diagnosed in U. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to breast cancer ? ### Response: Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the breast. " "Below is an instruction from Human. Write a response. ### Instruction: Is breast cancer inherited ? ### Response: Most cases of breast cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations in breast cells that are acquired during a person's lifetime, and they do not cluster in families. In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for breast cancer ? ### Response: These resources address the diagnosis or management of breast cancer: - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Gene Review: Gene Review: Li-Fraumeni Syndr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kniest dysplasia ? ### Response: Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kniest dysplasia ? ### Response: Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kniest dysplasia ? ### Response: Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kniest dysplasia ? ### Response: Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kniest dysplasia ? ### Response: These resources address the diagnosis or management of Kniest dysplasia: - Genetic Testing Registry: Kniest dysplasia - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ethylmalonic encephalopathy ? ### Response: Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by ethylmalonic encephalopathy ? ### Response: About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ethylmalonic encephalopathy ? ### Response: Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however. " "Below is an instruction from Human. Write a response. ### Instruction: Is ethylmalonic encephalopathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ethylmalonic encephalopathy ? ### Response: These resources address the diagnosis or management of ethylmalonic encephalopathy: - Baby's First Test - Genetic Testing Registry: Ethylmalonic encephalopathy - MedlinePlus Encyclopedia: Skin discoloration - bluish These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cystinosis ? ### Response: Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cystinosis ? ### Response: Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cystinosis ? ### Response: All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. " "Below is an instruction from Human. Write a response. ### Instruction: Is cystinosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cystinosis ? ### Response: These resources address the diagnosis or management of cystinosis: - Cystinosis Research Foundation: Treatment - Cystinosis Research Network: Symptoms and Treatment - Gene Review: Gene Review: Cystinosis - Genetic Testing Registry: Cystinosis - Genetic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mal de Meleda ? ### Response: Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mal de Meleda ? ### Response: Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mal de Meleda ? ### Response: Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in the skin. " "Below is an instruction from Human. Write a response. ### Instruction: Is mal de Meleda inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mal de Meleda ? ### Response: These resources address the diagnosis or management of mal de Meleda: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Acroerythrokeratoderma These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hypobetalipoproteinemia ? ### Response: Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hypobetalipoproteinemia ? ### Response: Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial hypobetalipoproteinemia ? ### Response: Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats and cholesterol in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial hypobetalipoproteinemia inherited ? ### Response: This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial hypobetalipoproteinemia ? ### Response: These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) guanidinoacetate methyltransferase deficiency ? ### Response: Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) guanidinoacetate methyltransferase deficiency ? ### Response: Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to guanidinoacetate methyltransferase deficiency ? ### Response: Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. " "Below is an instruction from Human. Write a response. ### Instruction: Is guanidinoacetate methyltransferase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for guanidinoacetate methyltransferase deficiency ? ### Response: These resources address the diagnosis or management of guanidinoacetate methyltransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Deficiency of guanidinoacetate methyltransferase These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ? ### Response: 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ? ### Response: 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ? ### Response: Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-methylcrotonyl-CoA carboxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-methylcrotonyl-CoA carboxylase deficiency ? ### Response: These resources address the diagnosis or management of 3-MCC deficiency: - Baby's First Test - Genetic Testing Registry: 3 Methylcrotonyl-CoA carboxylase 1 deficiency - Genetic Testing Registry: 3-methylcrotonyl CoA carboxylase 2 deficiency - Genetic Te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple epiphyseal dysplasia ? ### Response: Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by multiple epiphyseal dysplasia ? ### Response: The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple epiphyseal dysplasia ? ### Response: Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia. These genes provide instructions for making proteins that are found in the spaces between cartilage-forming cells (chondrocytes). These proteins interact with each other and play an important role in cartilage and bone formation. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple epiphyseal dysplasia inherited ? ### Response: Multiple epiphyseal dysplasia can have different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple epiphyseal dysplasia ? ### Response: These resources address the diagnosis or management of multiple epiphyseal dysplasia: - Cedars-Sinai Medical Center - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Dominant - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Recessive " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant partial epilepsy with auditory features ? ### Response: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal dominant partial epilepsy with auditory features ? ### Response: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal dominant partial epilepsy with auditory features ? ### Response: Mutations in the LGI1 gene cause ADPEAF. This gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal dominant partial epilepsy with auditory features inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal dominant partial epilepsy with auditory features ? ### Response: These resources address the diagnosis or management of ADPEAF: - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant - MedlinePlus Encycloped " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary hypophosphatemic rickets ? ### Response: Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary hypophosphatemic rickets ? ### Response: Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary hypophosphatemic rickets ? ### Response: Hereditary hypophosphatemic rickets can result from mutations in several genes. Mutations in the PHEX gene, which are responsible for X-linked hypophosphatemic rickets, occur most frequently. Mutations in other genes cause the less common forms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary hypophosphatemic rickets inherited ? ### Response: Hereditary hypophosphatemic rickets can have several patterns of inheritance. When the condition results from mutations in the PHEX gene, it is inherited in an X-linked dominant pattern. The PHEX gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary hypophosphatemic rickets ? ### Response: These resources address the diagnosis or management of hereditary hypophosphatemic rickets: - Gene Review: Gene Review: X-Linked Hypophosphatemia - Genetic Testing Registry: Autosomal dominant hypophosphatemic rickets - Genetic Testing Registry: Autosoma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glanzmann thrombasthenia ? ### Response: Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Glanzmann thrombasthenia ? ### Response: Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. " "Below is an instruction from Human. Write a response. ### Instruction: Is Glanzmann thrombasthenia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glanzmann thrombasthenia ? ### Response: These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombastheni " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuroferritinopathy ? ### Response: Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuroferritinopathy ? ### Response: Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neuroferritinopathy ? ### Response: Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. " "Below is an instruction from Human. Write a response. ### Instruction: Is neuroferritinopathy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neuroferritinopathy ? ### Response: These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diamond-Blackfan anemia ? ### Response: Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diamond-Blackfan anemia ? ### Response: Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Diamond-Blackfan anemia ? ### Response: Diamond-Blackfan anemia can be caused by mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes. These genes provide instructions for making several of the approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Diamond-Blackfan anemia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diamond-Blackfan anemia ? ### Response: These resources address the diagnosis or management of Diamond-Blackfan anemia: - Gene Review: Gene Review: Diamond-Blackfan Anemia - Genetic Testing Registry: Aase syndrome - Genetic Testing Registry: Diamond-Blackfan anemia - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 1p36 deletion syndrome ? ### Response: 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 1p36 deletion syndrome ? ### Response: 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 1p36 deletion syndrome ? ### Response: 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is 1p36 deletion syndrome inherited ? ### Response: Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 1p36 deletion syndrome ? ### Response: These resources address the diagnosis or management of 1p36 deletion syndrome: - Gene Review: Gene Review: 1p36 Deletion Syndrome - Genetic Testing Registry: Chromosome 1p36 deletion syndrome These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crouzonodermoskeletal syndrome ? ### Response: Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crouzonodermoskeletal syndrome ? ### Response: Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Crouzonodermoskeletal syndrome ? ### Response: Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Crouzonodermoskeletal syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. More commonly, this condition results from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crouzonodermoskeletal syndrome ? ### Response: These resources address the diagnosis or management of Crouzonodermoskeletal syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome with acanthosis nigricans - MedlinePlus Encyclopedia: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteoglophonic dysplasia ? ### Response: Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) osteoglophonic dysplasia ? ### Response: Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to osteoglophonic dysplasia ? ### Response: Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors. " "Below is an instruction from Human. Write a response. ### Instruction: Is osteoglophonic dysplasia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for osteoglophonic dysplasia ? ### Response: These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about th " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schimke immuno-osseous dysplasia ? ### Response: Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schimke immuno-osseous dysplasia ? ### Response: Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Schimke immuno-osseous dysplasia ? ### Response: Mutations in the SMARCAL1 gene increase the risk of Schimke immuno-osseous dysplasia. The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Schimke immuno-osseous dysplasia inherited ? ### Response: Mutations in the SMARCAL1 gene are inherited in an autosomal recessive pattern, which means that an increased risk of Schimke immuno-osseous dysplasia results from mutations in both copies of the SMARCAL1 gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schimke immuno-osseous dysplasia ? ### Response: These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oculocutaneous albinism ? ### Response: Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by oculocutaneous albinism ? ### Response: Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. The condition affects people in many ethnic groups and geographical regions. Types 1 and 2 are the most common forms of this condition; types 3 and 4 are less common. Type 2 occurs more frequently in African Americans, some Native American groups, and people from sub-Saharan Africa. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to oculocutaneous albinism ? ### Response: Oculocutaneous albinism can result from mutations in several genes, including TYR, OCA2, TYRP1, and SLC45A2. Changes in the TYR gene cause type 1; mutations in the OCA2 gene are responsible for type 2; TYRP1 mutations cause type 3; and changes in the SLC45A2 gene result in type 4. " "Below is an instruction from Human. Write a response. ### Instruction: Is oculocutaneous albinism inherited ? ### Response: Oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for oculocutaneous albinism ? ### Response: These resources address the diagnosis or management of oculocutaneous albinism: - Gene Review: Gene Review: Oculocutaneous Albinism Type 1 - Gene Review: Gene Review: Oculocutaneous Albinism Type 2 - Gene Review: Gene Review: Oculocutaneous Albinism Type " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) allergic asthma ? ### Response: Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, causing an allergic reaction. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by allergic asthma ? ### Response: Approximately 235 million people worldwide have asthma. In the United States, the condition affects an estimated 8 percent of the population. In nearly 90 percent of children and 50 percent of adults with asthma, the condition is classified as allergic asthma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to allergic asthma ? ### Response: The cause of allergic asthma is complex. It is likely that a combination of multiple genetic and environmental factors contribute to development of the condition. Doctors believe genes are involved because having a family member with allergic asthma or another allergic disorder increases a person's risk of developing asthma. " "Below is an instruction from Human. Write a response. ### Instruction: Is allergic asthma inherited ? ### Response: Allergic asthma can be passed through generations in families, but the inheritance pattern is unknown. People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. Because allergic asthma is a complex condition influenced by genetic and environmental factors, not all people with a mutation in an asthma-associated gene will develop the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for allergic asthma ? ### Response: These resources address the diagnosis or management of allergic asthma: - American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management - Genetic Testing Registry: Asthma, atopic - Genetic Testing Registry: Asthma, susceptibility to " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ovarian cancer ? ### Response: Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ovarian cancer ? ### Response: Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ovarian cancer ? ### Response: Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and are present only in certain cells in the ovary. " "Below is an instruction from Human. Write a response. ### Instruction: Is ovarian cancer inherited ? ### Response: Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple lentigines syndrome ? ### Response: Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple lentigines syndrome ? ### Response: Mutations in the PTPN11, RAF1, or BRAF genes cause multiple lentigines syndrome. Approximately 90 percent of individuals with multiple lentigines syndrome have mutations in the PTPN11 gene. RAF1 and BRAF gene mutations are responsible for a total of about 10 percent of cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple lentigines syndrome ? ### Response: Mutations in the PTPN11, RAF1, or BRAF genes cause multiple lentigines syndrome. Approximately 90 percent of individuals with multiple lentigines syndrome have mutations in the PTPN11 gene. RAF1 and BRAF gene mutations are responsible for a total of about 10 percent of cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple lentigines syndrome ? ### Response: These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? ### Response: Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? ### Response: CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. It is estimated that CAH due to 11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This condition is more common in Moroccan Jews living in Israel, occurring in approximately 1 in 5,000 to 7,000 newborns. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? ### Response: Mutations in the CYP11B1 gene cause CAH due to 11-beta-hydroxylase deficiency. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, where it helps produce hormones called cortisol and corticosterone. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? ### Response: These resources address the diagnosis or management of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: - Genetic Testing Registry: Deficiency of steroid 11-beta-monooxygenase - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adult polyglucosan body disease ? ### Response: Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adult polyglucosan body disease ? ### Response: Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adult polyglucosan body disease ? ### Response: Mutations in the GBE1 gene cause adult polyglucosan body disease. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is adult polyglucosan body disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adult polyglucosan body disease ? ### Response: These resources address the diagnosis or management of adult polyglucosan body disease: - Gene Review: Gene Review: Adult Polyglucosan Body Disease - Genetic Testing Registry: Polyglucosan body disease, adult - MedlinePlus Encyclopedia: Neurogenic Bladde " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebral cavernous malformation ? ### Response: Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cerebral cavernous malformation ? ### Response: Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cerebral cavernous malformation ? ### Response: Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighboring blood vessel cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is cerebral cavernous malformation inherited ? ### Response: This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent. Most people with cerebral cavernous malformations have the sporadic form of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cerebral cavernous malformation ? ### Response: These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malfor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) succinate-CoA ligase deficiency ? ### Response: Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) succinate-CoA ligase deficiency ? ### Response: Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. " "Below is an instruction from Human. Write a response. ### Instruction: Is succinate-CoA ligase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for succinate-CoA ligase deficiency ? ### Response: These resources address the diagnosis or management of succinate-CoA ligase deficiency: - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cowden syndrome ? ### Response: Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cowden syndrome ? ### Response: Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Cowden syndrome ? ### Response: Changes involving at least four genes, PTEN, SDHB, SDHD, and KLLN, have been identified in people with Cowden syndrome or Cowden-like syndrome. Most cases of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cowden syndrome inherited ? ### Response: Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cowden syndrome ? ### Response: These resources address the diagnosis or management of Cowden syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Cowden syndrome - Genetic Testing Registry: Cowden syndrome 1 - Genetic Testing Registry " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial glucocorticoid deficiency ? ### Response: Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial glucocorticoid deficiency ? ### Response: Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial glucocorticoid deficiency ? ### Response: Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition. The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, which is found primarily in the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial glucocorticoid deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial glucocorticoid deficiency ? ### Response: These resources address the diagnosis or management of familial glucocorticoid deficiency: - Genetic Testing Registry: ACTH resistance - Genetic Testing Registry: Glucocorticoid deficiency 2 - Genetic Testing Registry: Glucocorticoid deficiency 3 - Gene " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) caudal regression syndrome ? ### Response: Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) caudal regression syndrome ? ### Response: Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to caudal regression syndrome ? ### Response: Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to caudal regression syndrome ? ### Response: Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for caudal regression syndrome ? ### Response: These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: N " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mowat-Wilson syndrome ? ### Response: Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mowat-Wilson syndrome ? ### Response: Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Mowat-Wilson syndrome ? ### Response: Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Mowat-Wilson syndrome ? ### Response: Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mowat-Wilson syndrome ? ### Response: These resources address the diagnosis or management of Mowat-Wilson syndrome: - Gene Review: Gene Review: Mowat-Wilson Syndrome - Genetic Testing Registry: Mowat-Wilson syndrome - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) intranuclear rod myopathy ? ### Response: Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) intranuclear rod myopathy ? ### Response: Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to intranuclear rod myopathy ? ### Response: Intranuclear rod myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). " "Below is an instruction from Human. Write a response. ### Instruction: Is intranuclear rod myopathy inherited ? ### Response: Intranuclear rod myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for intranuclear rod myopathy ? ### Response: These resources address the diagnosis or management of intranuclear rod myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) craniofacial microsomia ? ### Response: Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by craniofacial microsomia ? ### Response: Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to craniofacial microsomia ? ### Response: It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, arteries, nerves, and cartilage of the face and neck. " "Below is an instruction from Human. Write a response. ### Instruction: Is craniofacial microsomia inherited ? ### Response: Craniofacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for craniofacial microsomia ? ### Response: These resources address the diagnosis or management of craniofacial microsomia: - Children's Hospital and Medical Center of the University of Nebraska - Gene Review: Gene Review: Craniofacial Microsomia Overview - Genetic Testing Registry: Goldenhar synd " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aromatase deficiency ? ### Response: Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or male (ambiguous genitalia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aromatase deficiency ? ### Response: Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or male (ambiguous genitalia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to aromatase deficiency ? ### Response: Mutations in the CYP19A1 gene cause aromatase deficiency. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. " "Below is an instruction from Human. Write a response. ### Instruction: Is aromatase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aromatase deficiency ? ### Response: These resources address the diagnosis or management of aromatase deficiency: - Genetic Testing Registry: Aromatase deficiency - MedlinePlus Encyclopedia: Ovarian Overproduction of Androgens These resources from MedlinePlus offer information about the di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cri-du-chat syndrome ? ### Response: Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cri-du-chat syndrome ? ### Response: Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. " "Below is an instruction from Human. Write a response. ### Instruction: Is cri-du-chat syndrome inherited ? ### Response: Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cri-du-chat syndrome ? ### Response: These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schwartz-Jampel syndrome ? ### Response: Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schwartz-Jampel syndrome ? ### Response: Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Schwartz-Jampel syndrome ? ### Response: Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Schwartz-Jampel syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schwartz-Jampel syndrome ? ### Response: These resources address the diagnosis or management of Schwartz-Jampel syndrome: - Genetic Testing Registry: Schwartz Jampel syndrome type 1 - National Institute of Neurological Disorders and Stroke: Myotonia Information Page These resources from Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meckel syndrome ? ### Response: Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meckel syndrome ? ### Response: Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Meckel syndrome ? ### Response: Meckel syndrome can be caused by mutations in one of at least eight genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Meckel syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meckel syndrome ? ### Response: These resources address the diagnosis or management of Meckel syndrome: - Genetic Testing Registry: Meckel syndrome type 1 - Genetic Testing Registry: Meckel syndrome type 2 - Genetic Testing Registry: Meckel syndrome type 3 - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) celiac disease ? ### Response: Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) celiac disease ? ### Response: Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to celiac disease ? ### Response: The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to celiac disease ? ### Response: The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for celiac disease ? ### Response: These resources address the diagnosis or management of celiac disease: - Beth Israel Deaconess: Celiac Center - Columbia University Celiac Disease Center - Gene Review: Gene Review: Celiac Disease - Genetic Testing Registry: Celiac disease - Massachuse " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lesch-Nyhan syndrome ? ### Response: Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lesch-Nyhan syndrome ? ### Response: Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lesch-Nyhan syndrome ? ### Response: Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lesch-Nyhan syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lesch-Nyhan syndrome ? ### Response: These resources address the diagnosis or management of Lesch-Nyhan syndrome: - Gene Review: Gene Review: Lesch-Nyhan Syndrome - Genetic Testing Registry: Lesch-Nyhan syndrome - MedlinePlus Encyclopedia: Lesch-Nyhan Syndrome - MedlinePlus Encyclopedia: U " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dopa-responsive dystonia ? ### Response: Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by dopa-responsive dystonia ? ### Response: Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is likely underdiagnosed because the condition may not be identified in people with mild symptoms, or it may be misdiagnosed in people who have symptoms similar to other movement disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dopa-responsive dystonia ? ### Response: Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition. The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase. This enzyme is involved in the first of three steps in the production of a molecule called tetrahydrobiopterin (BH4). " "Below is an instruction from Human. Write a response. ### Instruction: Is dopa-responsive dystonia inherited ? ### Response: When dopa-responsive dystonia is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dopa-responsive dystonia ? ### Response: These resources address the diagnosis or management of dopa-responsive dystonia: - Dartmouth-Hitchcock Children's Hospital at Dartmouth - Gene Review: Gene Review: Dystonia Overview - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cutis laxa ? ### Response: Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term ""cutis laxa"" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cutis laxa ? ### Response: Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term ""cutis laxa"" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cutis laxa ? ### Response: Cutis laxa can be caused by mutations in the ATP6V0A2, ATP7A, EFEMP2, ELN, or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is cutis laxa inherited ? ### Response: Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance. When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cutis laxa ? ### Response: These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bjrnstad syndrome ? ### Response: Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means ""twisted hair,"" so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bjrnstad syndrome ? ### Response: Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means ""twisted hair,"" so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bjrnstad syndrome ? ### Response: Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bjrnstad syndrome inherited ? ### Response: Bjrnstad syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bjrnstad syndrome ? ### Response: These resources address the diagnosis or management of Bjrnstad syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis - Genetic Testing Registry: Pili torti-deafness syndrome These resources from Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chordoma ? ### Response: A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chordoma ? ### Response: A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to chordoma ? ### Response: Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: Is chordoma inherited ? ### Response: When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this condition, not the condition itself. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for chordoma ? ### Response: These resources address the diagnosis or management of chordoma: - Chordoma Foundation: Treatment - Duke Spine Center - Genetic Testing Registry: Chordoma - Massachusetts General Hospital These resources from MedlinePlus offer information about the di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile Paget disease ? ### Response: Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile Paget disease ? ### Response: Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile Paget disease ? ### Response: Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile Paget disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile Paget disease ? ### Response: These resources address the diagnosis or management of juvenile Paget disease: - Genetic Testing Registry: Hyperphosphatasemia with bone disease These resources from MedlinePlus offer information about the diagnosis and management of various health condi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) anencephaly ? ### Response: Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by anencephaly ? ### Response: Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to anencephaly ? ### Response: Anencephaly is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with anencephaly and in their mothers may influence the risk of developing this type of neural tube defect. " "Below is an instruction from Human. Write a response. ### Instruction: Is anencephaly inherited ? ### Response: Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for anencephaly ? ### Response: These resources address the diagnosis or management of anencephaly: - Children's Hospital of Philadelphia - Genetic Testing Registry: Anencephalus - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adams-Oliver syndrome ? ### Response: Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adams-Oliver syndrome ? ### Response: Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Adams-Oliver syndrome ? ### Response: Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Adams-Oliver syndrome inherited ? ### Response: Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adams-Oliver syndrome ? ### Response: These resources address the diagnosis or management of Adams-Oliver syndrome: - Contact a Family - Gene Review: Gene Review: Adams-Oliver Syndrome - Genetic Testing Registry: Adams-Oliver syndrome - Genetic Testing Registry: Adams-Oliver syndrome 5 - G " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jackson-Weiss syndrome ? ### Response: Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jackson-Weiss syndrome ? ### Response: Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Jackson-Weiss syndrome ? ### Response: Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Jackson-Weiss syndrome ? ### Response: Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Jackson-Weiss syndrome ? ### Response: These resources address the diagnosis or management of Jackson-Weiss syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Jackson-Weiss syndrome - MedlinePlus Encyclopedia: Craniosynostosis These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis II alpha/beta ? ### Response: Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis II alpha/beta ? ### Response: Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucolipidosis II alpha/beta ? ### Response: Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucolipidosis II alpha/beta inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucolipidosis II alpha/beta ? ### Response: These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture defo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myoclonus-dystonia ? ### Response: Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myoclonus-dystonia ? ### Response: Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myoclonus-dystonia ? ### Response: Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is myoclonus-dystonia inherited ? ### Response: Myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or ""turned on,"" in all cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myoclonus-dystonia ? ### Response: These resources address the diagnosis or management of myoclonus-dystonia: - Gene Review: Gene Review: Myoclonus-Dystonia - Genetic Testing Registry: Myoclonic dystonia These resources from MedlinePlus offer information about the diagnosis and managemen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) complete LCAT deficiency ? ### Response: Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) complete LCAT deficiency ? ### Response: Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to complete LCAT deficiency ? ### Response: Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. " "Below is an instruction from Human. Write a response. ### Instruction: Is complete LCAT deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for complete LCAT deficiency ? ### Response: These resources address the diagnosis or management of complete LCAT deficiency: - Genetic Testing Registry: Norum disease - MedlinePlus Encyclopedia: Corneal Transplant - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? - Nat " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peters plus syndrome ? ### Response: Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peters plus syndrome ? ### Response: Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Peters plus syndrome ? ### Response: Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. " "Below is an instruction from Human. Write a response. ### Instruction: Is Peters plus syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peters plus syndrome ? ### Response: These resources address the diagnosis or management of Peters plus syndrome: - Gene Review: Gene Review: Peters Plus Syndrome - Genetic Testing Registry: Peters plus syndrome These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holt-Oram syndrome ? ### Response: Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holt-Oram syndrome ? ### Response: Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Holt-Oram syndrome ? ### Response: Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Holt-Oram syndrome ? ### Response: Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Holt-Oram syndrome ? ### Response: These resources address the diagnosis or management of Holt-Oram syndrome: - Gene Review: Gene Review: Holt-Oram Syndrome - Genetic Testing Registry: Holt-Oram syndrome - MedlinePlus Encyclopedia: Atrial Septal Defect - MedlinePlus Encyclopedia: Skeleta " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) essential thrombocythemia ? ### Response: Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) essential thrombocythemia ? ### Response: Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to essential thrombocythemia ? ### Response: The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is essential thrombocythemia inherited ? ### Response: Most cases of essential thrombocythemia are not inherited. Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for essential thrombocythemia ? ### Response: These resources address the diagnosis or management of essential thrombocythemia: - Cleveland Clinic: Thrombocytosis - Genetic Testing Registry: Essential thrombocythemia - Merck Manual for Health Care Professionals: Essential Thrombocythemia These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial isolated hyperparathyroidism ? ### Response: Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial isolated hyperparathyroidism ? ### Response: Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial isolated hyperparathyroidism ? ### Response: Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. The MEN1 gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial isolated hyperparathyroidism ? ### Response: Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. The MEN1 gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial isolated hyperparathyroidism ? ### Response: These resources address the diagnosis or management of familial isolated hyperparathyroidism: - Cleveland Clinic: Hyperparathyroidism - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 1 - MedlinePlus Enc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) polycystic kidney disease ? ### Response: Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by polycystic kidney disease ? ### Response: Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to polycystic kidney disease ? ### Response: Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. " "Below is an instruction from Human. Write a response. ### Instruction: Is polycystic kidney disease inherited ? ### Response: Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for polycystic kidney disease ? ### Response: These resources address the diagnosis or management of polycystic kidney disease: - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Dominant - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Recessive - Genetic Testing Regis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial cylindromatosis ? ### Response: Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial cylindromatosis ? ### Response: Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial cylindromatosis ? ### Response: Familial cylindromatosis is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial cylindromatosis inherited ? ### Response: Susceptibility to familial cylindromatosis has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial cylindromatosis ? ### Response: These resources address the diagnosis or management of familial cylindromatosis: - Genetic Testing Registry: Cylindromatosis, familial These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acute promyelocytic leukemia ? ### Response: Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acute promyelocytic leukemia ? ### Response: Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to acute promyelocytic leukemia ? ### Response: The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17. A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to acute promyelocytic leukemia ? ### Response: The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17. A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for acute promyelocytic leukemia ? ### Response: These resources address the diagnosis or management of acute promyelocytic leukemia: - American Cancer Society: Diagnosis of Acute Myeloid Leukemia - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia - Genetic Testing Registry: Acut " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Horner syndrome ? ### Response: Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Horner syndrome ? ### Response: Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Horner syndrome ? ### Response: Although congenital Horner syndrome can be passed down in families, no associated genes have been identified. Horner syndrome that appears after the newborn period (acquired Horner syndrome) and most cases of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. " "Below is an instruction from Human. Write a response. ### Instruction: Is Horner syndrome inherited ? ### Response: Horner syndrome is usually not inherited and occurs in individuals with no history of the disorder in their family. Acquired Horner syndrome and most cases of congenital Horner syndrome have nongenetic causes. Rarely, congenital Horner syndrome is passed down within a family in a pattern that appears to be autosomal dominant, which means one copy of an altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Horner syndrome ? ### Response: These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) giant axonal neuropathy ? ### Response: Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) giant axonal neuropathy ? ### Response: Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to giant axonal neuropathy ? ### Response: Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. " "Below is an instruction from Human. Write a response. ### Instruction: Is giant axonal neuropathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for giant axonal neuropathy ? ### Response: These resources address the diagnosis or management of giant axonal neuropathy: - Gene Review: Gene Review: Giant Axonal Neuropathy - Genetic Testing Registry: Giant axonal neuropathy These resources from MedlinePlus offer information about the diagnosi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hemophagocytic lymphohistiocytosis ? ### Response: Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hemophagocytic lymphohistiocytosis ? ### Response: Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial hemophagocytic lymphohistiocytosis ? ### Response: Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. By controlling the number of activated lymphocytes, these genes help regulate immune system function. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial hemophagocytic lymphohistiocytosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial hemophagocytic lymphohistiocytosis ? ### Response: These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis: - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis - Genetic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dopamine transporter deficiency syndrome ? ### Response: Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by dopamine transporter deficiency syndrome ? ### Response: Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dopamine transporter deficiency syndrome ? ### Response: Dopamine transporter deficiency syndrome is caused by mutations in the SLC6A3 gene. This gene provides instructions for making a protein called the dopamine transporter. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is dopamine transporter deficiency syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dopamine transporter deficiency syndrome ? ### Response: These resources address the diagnosis or management of dopamine transporter deficiency syndrome: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Infantile Parkinsonism-dystonia These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) globozoospermia ? ### Response: Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) globozoospermia ? ### Response: Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to globozoospermia ? ### Response: Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is globozoospermia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for globozoospermia ? ### Response: These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) recurrent hydatidiform mole ? ### Response: Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) recurrent hydatidiform mole ? ### Response: Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. " "Below is an instruction from Human. Write a response. ### Instruction: Is recurrent hydatidiform mole inherited ? ### Response: This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promote normal embryonic development), a hydatidiform mole will develop in each pregnancy that occurs with those egg cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for recurrent hydatidiform mole ? ### Response: These resources address the diagnosis or management of recurrent hydatidiform mole: - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease - Genetic Testing Registry: Hydatidiform mole - Genetic Testing Registry: Hydatidiform " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) core binding factor acute myeloid leukemia ? ### Response: Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to core binding factor acute myeloid leukemia ? ### Response: CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to core binding factor acute myeloid leukemia ? ### Response: CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for core binding factor acute myeloid leukemia ? ### Response: These resources address the diagnosis or management of core binding factor acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - Genetic Testing Registry: Acute myeloid leukemia - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gillespie syndrome ? ### Response: Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gillespie syndrome ? ### Response: Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Gillespie syndrome ? ### Response: Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gillespie syndrome inherited ? ### Response: In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gillespie syndrome ? ### Response: These resources address the diagnosis or management of Gillespie syndrome: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Intellectual and Developmental Disabilities? - Eunice Kenne " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pachyonychia congenita ? ### Response: Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pachyonychia congenita ? ### Response: Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pachyonychia congenita ? ### Response: Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nails. " "Below is an instruction from Human. Write a response. ### Instruction: Is pachyonychia congenita inherited ? ### Response: Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pachyonychia congenita ? ### Response: These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lattice corneal dystrophy type II ? ### Response: Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lattice corneal dystrophy type II ? ### Response: Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lattice corneal dystrophy type II ? ### Response: Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). " "Below is an instruction from Human. Write a response. ### Instruction: Is lattice corneal dystrophy type II inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lattice corneal dystrophy type II ? ### Response: These resources address the diagnosis or management of lattice corneal dystrophy type II: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Meretoja syndrome - Merck Manual Home Health Edition: Diagnosis of Eye Diso " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nager syndrome ? ### Response: Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nager syndrome ? ### Response: Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Nager syndrome ? ### Response: The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families. Nager syndrome disrupts the development of structures called the first and second pharyngeal arches. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nager syndrome inherited ? ### Response: Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nager syndrome ? ### Response: These resources address the diagnosis or management of Nager syndrome: - Genetic Testing Registry: Nager syndrome - University of California San Francisco Medical Center These resources from MedlinePlus offer information about the diagnosis and manageme " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meier-Gorlin syndrome ? ### Response: Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meier-Gorlin syndrome ? ### Response: Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Meier-Gorlin syndrome ? ### Response: Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. " "Below is an instruction from Human. Write a response. ### Instruction: Is Meier-Gorlin syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meier-Gorlin syndrome ? ### Response: These resources address the diagnosis or management of Meier-Gorlin syndrome: - Genetic Testing Registry: Meier-Gorlin syndrome - Genetic Testing Registry: Meier-Gorlin syndrome 2 - Genetic Testing Registry: Meier-Gorlin syndrome 3 - Genetic Testing Reg " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) proopiomelanocortin deficiency ? ### Response: Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to proopiomelanocortin deficiency ? ### Response: POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: Is proopiomelanocortin deficiency inherited ? ### Response: POMC deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for proopiomelanocortin deficiency ? ### Response: These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed? - Gene Review: Gene Review: Proopiomelanoco " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leukoencephalopathy with vanishing white matter ? ### Response: Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leukoencephalopathy with vanishing white matter ? ### Response: Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. " "Below is an instruction from Human. Write a response. ### Instruction: Is leukoencephalopathy with vanishing white matter inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for leukoencephalopathy with vanishing white matter ? ### Response: These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencepha " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) capillary malformation-arteriovenous malformation syndrome ? ### Response: Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins. " "Below is an instruction from Human. Write a response. ### Instruction: Is capillary malformation-arteriovenous malformation syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for capillary malformation-arteriovenous malformation syndrome ? ### Response: These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Capillary malformation-arteriovenous malformation These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 6q24-related transient neonatal diabetes mellitus ? ### Response: 6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by 6q24-related transient neonatal diabetes mellitus ? ### Response: Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 6q24-related transient neonatal diabetes mellitus ? ### Response: 6q24-related transient neonatal diabetes mellitus is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies of their genes, one from their mother and one from their father. " "Below is an instruction from Human. Write a response. ### Instruction: Is 6q24-related transient neonatal diabetes mellitus inherited ? ### Response: Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 6q24-related transient neonatal diabetes mellitus ? ### Response: These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus: - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal - Genetic Testing Registry: Transient neonatal diabetes mellitus 1 - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonbullous congenital ichthyosiform erythroderma ? ### Response: Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonbullous congenital ichthyosiform erythroderma ? ### Response: Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nonbullous congenital ichthyosiform erythroderma ? ### Response: Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. " "Below is an instruction from Human. Write a response. ### Instruction: Is nonbullous congenital ichthyosiform erythroderma inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nonbullous congenital ichthyosiform erythroderma ? ### Response: These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma: - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Geneti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) type 1 diabetes ? ### Response: Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by type 1 diabetes ? ### Response: Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to type 1 diabetes ? ### Response: The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to type 1 diabetes ? ### Response: The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for type 1 diabetes ? ### Response: These resources address the diagnosis or management of type 1 diabetes: - Food and Drug Administration: Blood Glucose Measuring Devices - Food and Drug Administration: Insulin - Genetic Testing Registry: Diabetes mellitus type 1 - Genetic Testing Regist " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) campomelic dysplasia ? ### Response: Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period. The term ""campomelic"" comes from the Greek words for ""bent limb. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) campomelic dysplasia ? ### Response: Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period. The term ""campomelic"" comes from the Greek words for ""bent limb. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to campomelic dysplasia ? ### Response: Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton and reproductive organs. " "Below is an instruction from Human. Write a response. ### Instruction: Is campomelic dysplasia inherited ? ### Response: Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for campomelic dysplasia ? ### Response: These resources address the diagnosis or management of campomelic dysplasia: - European Skeletal Dysplasia Network - Gene Review: Gene Review: Campomelic Dysplasia - Genetic Testing Registry: Camptomelic dysplasia - MedlinePlus Encyclopedia: Ambiguous G " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type 0 ? ### Response: Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by glycogen storage disease type 0 ? ### Response: The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type 0 ? ### Response: Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0. These genes provide instructions for making different versions of an enzyme called glycogen synthase. Both versions of glycogen synthase have the same function, to form glycogen molecules by linking together molecules of the simple sugar glucose, although they perform this function in different regions of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type 0 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type 0 ? ### Response: These resources address the diagnosis or management of glycogen storage disease type 0: - Genetic Testing Registry: Glycogen storage disease 0, muscle - Genetic Testing Registry: Hypoglycemia with deficiency of glycogen synthetase in the liver These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital fiber-type disproportion ? ### Response: Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital fiber-type disproportion ? ### Response: Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital fiber-type disproportion ? ### Response: Mutations in multiple genes can cause congenital fiber-type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, while mutations in other genes, some known and some unidentified, are responsible for the remaining cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital fiber-type disproportion inherited ? ### Response: Congenital fiber-type disproportion can have multiple inheritance patterns. When this condition is caused by mutations in the ACTA1 gene, it usually occurs in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital fiber-type disproportion ? ### Response: These resources address the diagnosis or management of congenital fiber-type disproportion: - Gene Review: Gene Review: Congenital Fiber-Type Disproportion - Genetic Testing Registry: Congenital myopathy with fiber type disproportion - MedlinePlus Encycl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) type A insulin resistance syndrome ? ### Response: Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) type A insulin resistance syndrome ? ### Response: Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to type A insulin resistance syndrome ? ### Response: Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is type A insulin resistance syndrome inherited ? ### Response: Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for type A insulin resistance syndrome ? ### Response: These resources address the diagnosis or management of type A insulin resistance syndrome: - Genetic Testing Registry: Insulin-resistant diabetes mellitus AND acanthosis nigricans These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Periphera " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) optic atrophy type 1 ? ### Response: Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) optic atrophy type 1 ? ### Response: Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to optic atrophy type 1 ? ### Response: Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in many types of cells and tissues throughout the body. The OPA1 protein is found inside mitochondria, which are the energy-producing centers of cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to optic atrophy type 1 ? ### Response: Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in many types of cells and tissues throughout the body. The OPA1 protein is found inside mitochondria, which are the energy-producing centers of cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for optic atrophy type 1 ? ### Response: These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Enc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) geleophysic dysplasia ? ### Response: Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) geleophysic dysplasia ? ### Response: Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to geleophysic dysplasia ? ### Response: Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is geleophysic dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for geleophysic dysplasia ? ### Response: These resources address the diagnosis or management of geleophysic dysplasia: - Gene Review: Gene Review: Geleophysic Dysplasia - Genetic Testing Registry: Geleophysic dysplasia 2 - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory and autonomic neuropathy type V ? ### Response: Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory and autonomic neuropathy type V ? ### Response: Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary sensory and autonomic neuropathy type V ? ### Response: Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary sensory and autonomic neuropathy type V inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary sensory and autonomic neuropathy type V ? ### Response: These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers These resources from MedlinePlus offer information about the diagnosis and management o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cardiofaciocutaneous syndrome ? ### Response: Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cardiofaciocutaneous syndrome ? ### Response: Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cardiofaciocutaneous syndrome ? ### Response: Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. " "Below is an instruction from Human. Write a response. ### Instruction: Is cardiofaciocutaneous syndrome inherited ? ### Response: Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cardiofaciocutaneous syndrome ? ### Response: These resources address the diagnosis or management of cardiofaciocutaneous syndrome: - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome - Genetic Testing Registry: Cardiofaciocutaneous syndrome These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) UV-sensitive syndrome ? ### Response: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) UV-sensitive syndrome ? ### Response: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to UV-sensitive syndrome ? ### Response: UV-sensitive syndrome can result from mutations in the ERCC6 gene (also known as the CSB gene), the ERCC8 gene (also known as the CSA gene), or the UVSSA gene. These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. " "Below is an instruction from Human. Write a response. ### Instruction: Is UV-sensitive syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for UV-sensitive syndrome ? ### Response: These resources address the diagnosis or management of UV-sensitive syndrome: - Genetic Testing Registry: UV-sensitive syndrome - Genetic Testing Registry: UV-sensitive syndrome 2 - Genetic Testing Registry: UV-sensitive syndrome 3 - Merck Manual Home H " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PDGFRA-associated chronic eosinophilic leukemia ? ### Response: PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PDGFRA-associated chronic eosinophilic leukemia ? ### Response: PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to PDGFRA-associated chronic eosinophilic leukemia ? ### Response: PDGFRA-associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is PDGFRA-associated chronic eosinophilic leukemia inherited ? ### Response: PDGFRA-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Mutations that lead to a PDGFRA fusion gene and PDGFRA point mutations are somatic mutations, which means they occur during a person's lifetime and are found only in certain cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for PDGFRA-associated chronic eosinophilic leukemia ? ### Response: These resources address the diagnosis or management of PDGFRA-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia - Eosinophilic: Treatment - Genetic Testing Registry: Idiopathic hypereosinophilic syndrome - MedlinePlus Encyclopedia: Eosinop " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tay-Sachs disease ? ### Response: Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Tay-Sachs disease ? ### Response: Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Tay-Sachs disease ? ### Response: Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tay-Sachs disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tay-Sachs disease ? ### Response: These resources address the diagnosis or management of Tay-Sachs disease: - Gene Review: Gene Review: Hexosaminidase A Deficiency - Genetic Testing Registry: Tay-Sachs disease - MedlinePlus Encyclopedia: Tay-Sachs Disease These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fryns syndrome ? ### Response: Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fryns syndrome ? ### Response: Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Fryns syndrome ? ### Response: The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fryns syndrome inherited ? ### Response: Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fryns syndrome ? ### Response: These resources address the diagnosis or management of Fryns syndrome: - Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia - Gene Review: Gene Review: Fryns Syndrome - Genetic Testing Registry: Fryns syndrome - Seattle Ch " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) malonyl-CoA decarboxylase deficiency ? ### Response: Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) malonyl-CoA decarboxylase deficiency ? ### Response: Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to malonyl-CoA decarboxylase deficiency ? ### Response: Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. " "Below is an instruction from Human. Write a response. ### Instruction: Is malonyl-CoA decarboxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for malonyl-CoA decarboxylase deficiency ? ### Response: These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sick sinus syndrome ? ### Response: Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. ""Sick sinus"" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sick sinus syndrome ? ### Response: Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. ""Sick sinus"" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sick sinus syndrome ? ### Response: Sick sinus syndrome can result from genetic or environmental factors. In many cases, the cause of the condition is unknown. Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. " "Below is an instruction from Human. Write a response. ### Instruction: Is sick sinus syndrome inherited ? ### Response: Most cases of sick sinus syndrome are not inherited. They are described as sporadic, which means they occur in people with no history of the disorder in their family. When sick sinus syndrome results from mutations in the HCN4 gene, it has an autosomal dominant pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sick sinus syndrome ? ### Response: These resources address the diagnosis or management of sick sinus syndrome: - Cleveland Clinic: Management of Arrhythmias - Genetic Testing Registry: Sick sinus syndrome 1, autosomal recessive - Genetic Testing Registry: Sick sinus syndrome 2, autosomal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM3 synthase deficiency ? ### Response: GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM3 synthase deficiency ? ### Response: GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GM3 synthase deficiency ? ### Response: Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for making an enzyme called GM3 synthase, which carries out a chemical reaction that is the first step in the production of molecules called gangliosides. " "Below is an instruction from Human. Write a response. ### Instruction: Is GM3 synthase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GM3 synthase deficiency ? ### Response: These resources address the diagnosis or management of GM3 synthase deficiency: - American Epilepsy Society: Find a Doctor - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Amish infantile epilepsy syndrome These resou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myhre syndrome ? ### Response: Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myhre syndrome ? ### Response: Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Myhre syndrome ? ### Response: Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Myhre syndrome ? ### Response: Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myhre syndrome ? ### Response: These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Comm " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ADCY5-related dyskinesia ? ### Response: ADCY5-related dyskinesia is a movement disorder; the term ""dyskinesia"" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ADCY5-related dyskinesia ? ### Response: As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). " "Below is an instruction from Human. Write a response. ### Instruction: Is ADCY5-related dyskinesia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ADCY5-related dyskinesia ? ### Response: These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shwachman-Diamond syndrome ? ### Response: Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are necessary for normal blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shwachman-Diamond syndrome ? ### Response: Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are necessary for normal blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Shwachman-Diamond syndrome ? ### Response: Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Shwachman-Diamond syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shwachman-Diamond syndrome ? ### Response: These resources address the diagnosis or management of Shwachman-Diamond syndrome: - Gene Review: Gene Review: Shwachman-Diamond Syndrome - Genetic Testing Registry: Shwachman syndrome - MedlinePlus Encyclopedia: Malabsorption These resources from Medl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) essential tremor ? ### Response: Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by essential tremor ? ### Response: Essential tremor is a common disorder, affecting up to 10 million people in the United States. Estimates of its prevalence vary widely because several other disorders, as well as other factors such as certain medications, can result in similar tremors. In addition, mild cases are often not brought to medical attention, or may not be detected in clinical exams that do not include the particular circumstances in which an individual's tremor occurs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to essential tremor ? ### Response: The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes as well as environmental factors likely help determine an individual's risk of developing this complex condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is essential tremor inherited ? ### Response: Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause essential tremor have been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for essential tremor ? ### Response: These resources address the diagnosis or management of essential tremor: - Genetic Testing Registry: Hereditary essential tremor 1 - Johns Hopkins Movement Disorders Center - MedlinePlus Encyclopedia: Essential Tremor These resources from MedlinePlus o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 7 ? ### Response: Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 7 ? ### Response: Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spastic paraplegia type 7 ? ### Response: Mutations in the SPG7 gene cause spastic paraplegia type 7. The SPG7 gene provides instructions for producing a protein called paraplegin. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 7 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 7 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 7: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 7 - Genetic Testing Registry: Spastic paraplegia 7 - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duchenne and Becker muscular dystrophy ? ### Response: Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duchenne and Becker muscular dystrophy ? ### Response: Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Duchenne and Becker muscular dystrophy ? ### Response: Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin. This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Duchenne and Becker muscular dystrophy inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Duchenne and Becker muscular dystrophy ? ### Response: These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Becker muscular dystroph " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) combined pituitary hormone deficiency ? ### Response: Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) combined pituitary hormone deficiency ? ### Response: Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to combined pituitary hormone deficiency ? ### Response: Mutations in at least eight genes have been found to cause combined pituitary hormone deficiency. Mutations in the PROP1 gene are the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of cases. Mutations in other genes have each been identified in a smaller number of affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is combined pituitary hormone deficiency inherited ? ### Response: Most cases of combined pituitary hormone deficiency are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for combined pituitary hormone deficiency ? ### Response: These resources address the diagnosis or management of combined pituitary hormone deficiency: - Gene Review: Gene Review: PROP1-Related Combined Pituitary Hormone Deficiency - Genetic Testing Registry: Pituitary hormone deficiency, combined - Genetic Tes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple mitochondrial dysfunctions syndrome ? ### Response: Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple mitochondrial dysfunctions syndrome ? ### Response: Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple mitochondrial dysfunctions syndrome ? ### Response: Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 or BOLA3 gene. The proteins produced from each of these genes appear to be involved in the formation of molecules called iron-sulfur (Fe-S) clusters or in the attachment of these clusters to other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple mitochondrial dysfunctions syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple mitochondrial dysfunctions syndrome ? ### Response: These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 - Genetic Testing " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth disease ? ### Response: Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth disease ? ### Response: Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. " "Below is an instruction from Human. Write a response. ### Instruction: Is Charcot-Marie-Tooth disease inherited ? ### Response: The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Charcot-Marie-Tooth disease ? ### Response: These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Revie " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypophosphatasia ? ### Response: Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hypophosphatasia ? ### Response: Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. Milder cases, such as those that appear in childhood or adulthood, probably occur more frequently. Hypophosphatasia has been reported worldwide in people of various ethnic backgrounds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypophosphatasia ? ### Response: Mutations in the ALPL gene cause hypophosphatasia. The ALPL gene provides instructions for making an enzyme called alkaline phosphatase. This enzyme plays an essential role in mineralization of the skeleton and teeth. Mutations in the ALPL gene lead to the production of an abnormal version of alkaline phosphatase that cannot participate effectively in the mineralization process. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypophosphatasia inherited ? ### Response: The severe forms of hypophosphatasia that appear early in life are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypophosphatasia ? ### Response: These resources address the diagnosis or management of hypophosphatasia: - Gene Review: Gene Review: Hypophosphatasia - Genetic Testing Registry: Adult hypophosphatasia - Genetic Testing Registry: Childhood hypophosphatasia - Genetic Testing Registry: H " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) supravalvular aortic stenosis ? ### Response: Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) supravalvular aortic stenosis ? ### Response: Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). " "Below is an instruction from Human. Write a response. ### Instruction: Is supravalvular aortic stenosis inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of SVAS. (This situation is known as reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for supravalvular aortic stenosis ? ### Response: These resources address the diagnosis or management of supravalvular aortic stenosis: - Children's Hospital of Philadelphia - Genetic Testing Registry: Supravalvar aortic stenosis - Monroe Carell Jr. Children's Hospital at Vanderbilt These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermolytic hyperkeratosis ? ### Response: Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermolytic hyperkeratosis ? ### Response: Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to epidermolytic hyperkeratosis ? ### Response: Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). " "Below is an instruction from Human. Write a response. ### Instruction: Is epidermolytic hyperkeratosis inherited ? ### Response: Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family. When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant pattern, which means one copy of the altered KRT1 or KRT10 gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for epidermolytic hyperkeratosis ? ### Response: These resources address the diagnosis or management of epidermolytic hyperkeratosis: - Genetic Testing Registry: Bullous ichthyosiform erythroderma - The Swedish Information Centre for Rare Diseases: Ichthyosis These resources from MedlinePlus offer inf " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive familial heart block ? ### Response: Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive familial heart block ? ### Response: Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to progressive familial heart block ? ### Response: Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The proteins produced from these genes are channels that allow positively charged atoms (cations) into and out of cells. Both channels are abundant in heart (cardiac) cells and play key roles in these cells' ability to generate and transmit electrical signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is progressive familial heart block inherited ? ### Response: Progressive familial heart block types I and II are inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Some people with TRPM4 gene mutations never develop the condition, a situation known as reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for progressive familial heart block ? ### Response: These resources address the diagnosis or management of progressive familial heart block: - American Heart Association: Common Tests for Arrhythmia - Genetic Testing Registry: Progressive familial heart block type 1A - Genetic Testing Registry: Progressiv " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fucosidosis ? ### Response: Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fucosidosis ? ### Response: Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fucosidosis ? ### Response: Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). " "Below is an instruction from Human. Write a response. ### Instruction: Is fucosidosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fucosidosis ? ### Response: These resources address the diagnosis or management of fucosidosis: - Genetic Testing Registry: Fucosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer disease ? ### Response: Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Alzheimer disease ? ### Response: Alzheimer disease currently affects an estimated 2.4 million to 4.5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Alzheimer disease ? ### Response: Most cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. Researchers have found that this form of the disorder can result from mutations in one of three genes: APP, PSEN1, or PSEN2. When any of these genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alzheimer disease inherited ? ### Response: The early-onset form of Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alzheimer disease ? ### Response: These resources address the diagnosis or management of Alzheimer disease: - Alzheimer's Disease Research Center, Washington University School of Medicine - Gene Review: Gene Review: Alzheimer Disease Overview - Gene Review: Gene Review: Early-Onset Famil " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) centronuclear myopathy ? ### Response: Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) centronuclear myopathy ? ### Response: Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: Is centronuclear myopathy inherited ? ### Response: When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for centronuclear myopathy ? ### Response: These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutathione synthetase deficiency ? ### Response: Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutathione synthetase deficiency ? ### Response: Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glutathione synthetase deficiency ? ### Response: Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is glutathione synthetase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glutathione synthetase deficiency ? ### Response: These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Koolen-de Vries syndrome ? ### Response: Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Koolen-de Vries syndrome ? ### Response: Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Koolen-de Vries syndrome ? ### Response: Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. " "Below is an instruction from Human. Write a response. ### Instruction: Is Koolen-de Vries syndrome inherited ? ### Response: Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Koolen-de Vries syndrome ? ### Response: These resources address the diagnosis or management of Koolen-de Vries syndrome: - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome - Genetic Testing Registry: Koolen-de Vries syndrome These resources from MedlinePlus offer info " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Williams syndrome ? ### Response: Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Williams syndrome ? ### Response: Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Williams syndrome ? ### Response: Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is Williams syndrome inherited ? ### Response: Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Williams syndrome ? ### Response: These resources address the diagnosis or management of Williams syndrome: - Gene Review: Gene Review: Williams Syndrome - Genetic Testing Registry: Williams syndrome - MedlinePlus Encyclopedia: Williams Syndrome These resources from MedlinePlus offer i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile primary osteoporosis ? ### Response: Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by juvenile primary osteoporosis ? ### Response: The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile primary osteoporosis ? ### Response: Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile primary osteoporosis ? ### Response: Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile primary osteoporosis ? ### Response: These resources address the diagnosis or management of juvenile primary osteoporosis: - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteop " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acatalasemia ? ### Response: Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by acatalasemia ? ### Response: More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to acatalasemia ? ### Response: Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is acatalasemia inherited ? ### Response: Acatalasemia has an autosomal recessive pattern of inheritance, which means both copies of the CAT gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal. When only one of the two copies of the CAT gene has a mutation, the activity of catalase is reduced by approximately half. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for acatalasemia ? ### Response: These resources address the diagnosis or management of acatalasemia: - Genetic Testing Registry: Acatalasemia - Genetic Testing Registry: Acatalasemia, japanese type These resources from MedlinePlus offer information about the diagnosis and management o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kuskokwim syndrome ? ### Response: Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kuskokwim syndrome ? ### Response: Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kuskokwim syndrome ? ### Response: Kuskokwim syndrome is caused by mutations in the FKBP10 gene, which provides instructions for making the FKBP10 protein (formerly known as FKBP65). This protein is important for the correct processing of complex molecules called collagens, which provide structure and strength to connective tissues that support the body's bones, joints, and organs. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kuskokwim syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kuskokwim syndrome ? ### Response: These resources address the diagnosis or management of Kuskokwim syndrome: - Genetic Testing Registry: Kuskokwim disease - Mount Sinai Hospital: Contractures Information These resources from MedlinePlus offer information about the diagnosis and manageme " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ankylosing spondylitis ? ### Response: Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ankylosing spondylitis ? ### Response: Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ankylosing spondylitis ? ### Response: Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder. The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. " "Below is an instruction from Human. Write a response. ### Instruction: Is ankylosing spondylitis inherited ? ### Response: Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not mean that a person will develop the condition, even in families in which more than one family member has the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ankylosing spondylitis ? ### Response: These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal tubular acidosis with deafness ? ### Response: Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal tubular acidosis with deafness ? ### Response: Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is renal tubular acidosis with deafness inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for renal tubular acidosis with deafness ? ### Response: These resources address the diagnosis or management of renal tubular acidosis with deafness: - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness - MedlinePlus Encyclopedia: Audiometry - MedlinePlus Encyclopedia: Kidney Func " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) anhidrotic ectodermal dysplasia with immune deficiency ? ### Response: Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) anhidrotic ectodermal dysplasia with immune deficiency ? ### Response: Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. " "Below is an instruction from Human. Write a response. ### Instruction: Is anhidrotic ectodermal dysplasia with immune deficiency inherited ? ### Response: When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ? ### Response: These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) McLeod neuroacanthocytosis syndrome ? ### Response: McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) McLeod neuroacanthocytosis syndrome ? ### Response: McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to McLeod neuroacanthocytosis syndrome ? ### Response: Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. " "Below is an instruction from Human. Write a response. ### Instruction: Is McLeod neuroacanthocytosis syndrome inherited ? ### Response: McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for McLeod neuroacanthocytosis syndrome ? ### Response: These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alagille syndrome ? ### Response: Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alagille syndrome ? ### Response: Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Alagille syndrome ? ### Response: In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alagille syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alagille syndrome ? ### Response: These resources address the diagnosis or management of Alagille syndrome: - Boston Children's Hospital - Children's Hospital of Philadelphia - Children's Hospital of Pittsburgh - Gene Review: Gene Review: Alagille Syndrome - Genetic Testing Registry: A " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nicolaides-Baraitser syndrome ? ### Response: Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Nicolaides-Baraitser syndrome ? ### Response: Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nicolaides-Baraitser syndrome inherited ? ### Response: Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nicolaides-Baraitser syndrome ? ### Response: These resources address the diagnosis or management of Nicolaides-Baraitser syndrome: - Gene Review: Gene Review: Nicolaides-Baraitser Syndrome - Genetic Testing Registry: Nicolaides-Baraitser syndrome These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) laryngo-onycho-cutaneous syndrome ? ### Response: Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) laryngo-onycho-cutaneous syndrome ? ### Response: Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to laryngo-onycho-cutaneous syndrome ? ### Response: LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced from other genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is laryngo-onycho-cutaneous syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for laryngo-onycho-cutaneous syndrome ? ### Response: These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome: - Genetic Testing Registry: Laryngoonychocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory neuropathy type IA ? ### Response: Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary sensory neuropathy type IA ? ### Response: Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary sensory neuropathy type IA ? ### Response: Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary sensory neuropathy type IA ? ### Response: Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary sensory neuropathy type IA ? ### Response: These resources address the diagnosis or management of hereditary sensory neuropathy type IA: - Gene Review: Gene Review: Hereditary Sensory Neuropathy Type IA - Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1 - Rare Diseases " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SYNGAP1-related intellectual disability ? ### Response: SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SYNGAP1-related intellectual disability ? ### Response: SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to SYNGAP1-related intellectual disability ? ### Response: SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning and memory. " "Below is an instruction from Human. Write a response. ### Instruction: Is SYNGAP1-related intellectual disability inherited ? ### Response: SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SYNGAP1-related intellectual disability ? ### Response: These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypomyelination and congenital cataract ? ### Response: Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypomyelination and congenital cataract ? ### Response: Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypomyelination and congenital cataract ? ### Response: Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypomyelination and congenital cataract inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypomyelination and congenital cataract ? ### Response: These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclop " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ALG12-congenital disorder of glycosylation ? ### Response: ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ALG12-congenital disorder of glycosylation ? ### Response: ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ALG12-congenital disorder of glycosylation ? ### Response: Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). " "Below is an instruction from Human. Write a response. ### Instruction: Is ALG12-congenital disorder of glycosylation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ALG12-congenital disorder of glycosylation ? ### Response: These resources address the diagnosis or management of ALG12-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1G These resources from M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neurohypophyseal diabetes insipidus ? ### Response: Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neurohypophyseal diabetes insipidus ? ### Response: Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neurohypophyseal diabetes insipidus ? ### Response: The familial form of neurohypophyseal diabetes insipidus is caused by mutations in the AVP gene. This gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). This hormone, which is produced and stored in the brain, helps control the body's water balance. " "Below is an instruction from Human. Write a response. ### Instruction: Is neurohypophyseal diabetes insipidus inherited ? ### Response: Familial neurohypophyseal diabetes insipidus is almost always inherited in an autosomal dominant pattern, which means one copy of the altered AVP gene in each cell is sufficient to cause the disorder. In a few affected families, the condition has had an autosomal recessive pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neurohypophyseal diabetes insipidus ? ### Response: These resources address the diagnosis or management of neurohypophyseal diabetes insipidus: - Genetic Testing Registry: Neurohypophyseal diabetes insipidus - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Central These r " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkes Weber syndrome ? ### Response: Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkes Weber syndrome ? ### Response: Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Parkes Weber syndrome ? ### Response: Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. " "Below is an instruction from Human. Write a response. ### Instruction: Is Parkes Weber syndrome inherited ? ### Response: Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic. When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parkes Weber syndrome ? ### Response: These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber syndrome These resources from MedlinePlus offer information about the diagnosis an " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 5q minus syndrome ? ### Response: 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 5q minus syndrome ? ### Response: 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 5q minus syndrome ? ### Response: 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 5q minus syndrome ? ### Response: 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 5q minus syndrome ? ### Response: These resources address the diagnosis or management of 5q minus syndrome: - American Cancer Society: How are Myelodysplastic Syndromes Diagnosed? - Cancer.Net: MyelodysplasticSyndromes: Treatment Options - Genetic Testing Registry: 5q- syndrome - Nation " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lafora progressive myoclonus epilepsy ? ### Response: Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Lafora progressive myoclonus epilepsy ? ### Response: The prevalence of Lafora progressive myoclonus epilepsy is unknown. Although the condition occurs worldwide, it appears to be most common in Mediterranean countries (including Spain, France, and Italy), parts of Central Asia, India, Pakistan, North Africa, and the Middle East. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lafora progressive myoclonus epilepsy ? ### Response: Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lafora progressive myoclonus epilepsy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lafora progressive myoclonus epilepsy ? ### Response: These resources address the diagnosis or management of Lafora progressive myoclonus epilepsy: - Gene Review: Gene Review: Progressive Myoclonus Epilepsy, Lafora Type - Genetic Testing Registry: Lafora disease - MedlinePlus Encyclopedia: Epilepsy - Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ring chromosome 20 syndrome ? ### Response: Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ring chromosome 20 syndrome ? ### Response: Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ring chromosome 20 syndrome ? ### Response: Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in some or all of their cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is ring chromosome 20 syndrome inherited ? ### Response: Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ring chromosome 20 syndrome ? ### Response: These resources address the diagnosis or management of ring chromosome 20 syndrome: - Genetic Testing Registry: Ring chromosome 20 syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Char syndrome ? ### Response: Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Char syndrome ? ### Response: Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Char syndrome ? ### Response: Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Char syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Char syndrome ? ### Response: These resources address the diagnosis or management of Char syndrome: - Gene Review: Gene Review: Char Syndrome - Genetic Testing Registry: Char syndrome - MedlinePlus Encyclopedia: Patent Ductus Arteriosus These resources from MedlinePlus offer inform " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) fragile XE syndrome ? ### Response: Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by fragile XE syndrome ? ### Response: Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to fragile XE syndrome ? ### Response: Fragile XE syndrome is caused by mutations in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is fragile XE syndrome inherited ? ### Response: Fragile XE syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for fragile XE syndrome ? ### Response: These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE These resources from MedlinePlus offer information about the d " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sotos syndrome ? ### Response: Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Sotos syndrome ? ### Response: Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Sotos syndrome ? ### Response: Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sotos syndrome inherited ? ### Response: About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene. A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sotos syndrome ? ### Response: These resources address the diagnosis or management of Sotos syndrome: - Gene Review: Gene Review: Sotos Syndrome - Genetic Testing Registry: Sotos' syndrome - MedlinePlus Encyclopedia: Increased Head Circumference These resources from MedlinePlus offe " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile neuroaxonal dystrophy ? ### Response: Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile neuroaxonal dystrophy ? ### Response: Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to infantile neuroaxonal dystrophy ? ### Response: Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. " "Below is an instruction from Human. Write a response. ### Instruction: Is infantile neuroaxonal dystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for infantile neuroaxonal dystrophy ? ### Response: These resources address the diagnosis or management of infantile neuroaxonal dystrophy: - Gene Review: Gene Review: PLA2G6-Associated Neurodegeneration - Genetic Testing Registry: Infantile neuroaxonal dystrophy These resources from MedlinePlus offer in " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tibial muscular dystrophy ? ### Response: Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by tibial muscular dystrophy ? ### Response: Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancestry. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tibial muscular dystrophy ? ### Response: Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tibial muscular dystrophy ? ### Response: Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tibial muscular dystrophy ? ### Response: These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial pityriasis rubra pilaris ? ### Response: Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term ""pityriasis"" refers to scaling; ""rubra"" means redness; and ""pilaris"" suggests the involvement of hair follicles in this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial pityriasis rubra pilaris ? ### Response: Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term ""pityriasis"" refers to scaling; ""rubra"" means redness; and ""pilaris"" suggests the involvement of hair follicles in this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial pityriasis rubra pilaris ? ### Response: In most cases of pityriasis rubra pilaris, the cause of the condition is unknown. However, mutations in the CARD14 gene have been found to cause the familial form of the disorder in a few affected families. The CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting proteins known as nuclear factor-kappa-B (NF-B). " "Below is an instruction from Human. Write a response. ### Instruction: Is familial pityriasis rubra pilaris inherited ? ### Response: Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops the condition's characteristic skin abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial pityriasis rubra pilaris ? ### Response: These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypochromic microcytic anemia with iron overload ? ### Response: Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypochromic microcytic anemia with iron overload ? ### Response: Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypochromic microcytic anemia with iron overload ? ### Response: Mutations in the SLC11A2 gene cause hypochromic microcytic anemia with iron overload. The SLC11A2 gene provides instructions for making a protein called divalent metal transporter 1 (DMT1). The DMT1 protein is found in all tissues, where its primary role is to transport positively charged iron atoms (ions) within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypochromic microcytic anemia with iron overload inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypochromic microcytic anemia with iron overload ? ### Response: These resources address the diagnosis or management of hypochromic microcytic anemia with iron overload: - Genetic Testing Registry: Hypochromic microcytic anemia with iron overload These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital cataracts, facial dysmorphism, and neuropathy ? ### Response: Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital cataracts, facial dysmorphism, and neuropathy ? ### Response: Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital cataracts, facial dysmorphism, and neuropathy ? ### Response: A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital cataracts, facial dysmorphism, and neuropathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital cataracts, facial dysmorphism, and neuropathy ? ### Response: These resources address the diagnosis or management of CCFDN: - Gene Review: Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - Genetic Testing Registry: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - MedlinePlus Encyclop " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Costeff syndrome ? ### Response: Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Costeff syndrome ? ### Response: Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Costeff syndrome ? ### Response: Mutations in the OPA3 gene cause Costeff syndrome. The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating the shape of mitochondria. " "Below is an instruction from Human. Write a response. ### Instruction: Is Costeff syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Costeff syndrome ? ### Response: These resources address the diagnosis or management of Costeff syndrome: - Baby's First Test - Gene Review: Gene Review: OPA3-Related 3-Methylglutaconic Aciduria - Genetic Testing Registry: 3-Methylglutaconic aciduria type 3 - MedlinePlus Encyclopedia: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thiamine-responsive megaloblastic anemia syndrome ? ### Response: Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thiamine-responsive megaloblastic anemia syndrome ? ### Response: Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to thiamine-responsive megaloblastic anemia syndrome ? ### Response: Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia syndrome. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions. " "Below is an instruction from Human. Write a response. ### Instruction: Is thiamine-responsive megaloblastic anemia syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for thiamine-responsive megaloblastic anemia syndrome ? ### Response: These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sheldon-Hall syndrome ? ### Response: Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term ""arthrogryposis"" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sheldon-Hall syndrome ? ### Response: Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term ""arthrogryposis"" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Sheldon-Hall syndrome ? ### Response: Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. These genes provide instructions for making proteins that are involved in muscle tensing (contraction). Muscle contraction occurs when thick filaments made of proteins called myosins slide past thin filaments made of proteins called actins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sheldon-Hall syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50 percent of cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sheldon-Hall syndrome ? ### Response: These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cholesteryl ester storage disease ? ### Response: Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cholesteryl ester storage disease ? ### Response: Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cholesteryl ester storage disease ? ### Response: Mutations in the LIPA gene cause cholesteryl ester storage disease. The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and triglycerides. " "Below is an instruction from Human. Write a response. ### Instruction: Is cholesteryl ester storage disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cholesteryl ester storage disease ? ### Response: These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources fro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital diaphragmatic hernia ? ### Response: Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital diaphragmatic hernia ? ### Response: Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital diaphragmatic hernia ? ### Response: Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital diaphragmatic hernia inherited ? ### Response: Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital diaphragmatic hernia ? ### Response: These resources address the diagnosis or management of congenital diaphragmatic hernia: - Boston Children's Hospital - Children's Hospital of Philadelphia - Columbia University Medical Center: DHREAMS - Columbia University Medical Center: Hernia Repair " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) common variable immune deficiency ? ### Response: Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) common variable immune deficiency ? ### Response: Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to common variable immune deficiency ? ### Response: CVID is believed to result from mutations in genes that are involved in the development and function of immune system cells called B cells. B cells are specialized white blood cells that help protect the body against infection. When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). " "Below is an instruction from Human. Write a response. ### Instruction: Is common variable immune deficiency inherited ? ### Response: Most cases of CVID are sporadic and occur in people with no apparent history of the disorder in their family. These cases probably result from a complex interaction of environmental and genetic factors. In some families, CVID is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for common variable immune deficiency ? ### Response: These resources address the diagnosis or management of common variable immune deficiency: - Genetic Testing Registry: Common variable immunodeficiency 10 - Genetic Testing Registry: Common variable immunodeficiency 11 - Genetic Testing Registry: Common v " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile hyaline fibromatosis ? ### Response: Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile hyaline fibromatosis ? ### Response: Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile hyaline fibromatosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile hyaline fibromatosis ? ### Response: These resources address the diagnosis or management of juvenile hyaline fibromatosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile-onset ascending hereditary spastic paralysis ? ### Response: Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile-onset ascending hereditary spastic paralysis ? ### Response: Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to infantile-onset ascending hereditary spastic paralysis ? ### Response: Infantile-onset ascending hereditary spastic paralysis is caused by mutations in the ALS2 gene. This gene provides instructions for making the alsin protein. Alsin is produced in a wide range of tissues, with highest amounts in the brain, particularly in motor neurons. " "Below is an instruction from Human. Write a response. ### Instruction: Is infantile-onset ascending hereditary spastic paralysis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for infantile-onset ascending hereditary spastic paralysis ? ### Response: These resources address the diagnosis or management of infantile-onset ascending hereditary spastic paralysis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis These re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) frontotemporal dementia with parkinsonism-17 ? ### Response: Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by frontotemporal dementia with parkinsonism-17 ? ### Response: The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where the disease prevalence has been studied, it is estimated to affect 1 in 1 million people. However, the disorder is likely underdiagnosed, so it may actually be more common than this. FTDP-17 probably accounts for a small percentage of all cases of frontotemporal dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to frontotemporal dementia with parkinsonism-17 ? ### Response: FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to frontotemporal dementia with parkinsonism-17 ? ### Response: FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for frontotemporal dementia with parkinsonism-17 ? ### Response: These resources address the diagnosis or management of FTDP-17: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Frontotemporal dementia These resources from MedlinePlus offer information about the diagnosis and management " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive spastic ataxia of Charlevoix-Saguenay ? ### Response: Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and speech difficulties (dysarthria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive spastic ataxia of Charlevoix-Saguenay ? ### Response: Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, but the specific function of the protein is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive spastic ataxia of Charlevoix-Saguenay inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay ? ### Response: These resources address the diagnosis or management of ARSACS: - Gene Review: Gene Review: ARSACS - Genetic Testing Registry: Spastic ataxia Charlevoix-Saguenay type These resources from MedlinePlus offer information about the diagnosis and management o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acromicric dysplasia ? ### Response: Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) acromicric dysplasia ? ### Response: Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to acromicric dysplasia ? ### Response: Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is acromicric dysplasia inherited ? ### Response: Acromicric dysplasia is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for acromicric dysplasia ? ### Response: These resources address the diagnosis or management of acromicric dysplasia: - Genetic Testing Registry: Acromicric dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chorea-acanthocytosis ? ### Response: Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chorea-acanthocytosis ? ### Response: Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to chorea-acanthocytosis ? ### Response: Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is chorea-acanthocytosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for chorea-acanthocytosis ? ### Response: These resources address the diagnosis or management of chorea-acanthocytosis: - Gene Review: Gene Review: Chorea-Acanthocytosis - Genetic Testing Registry: Choreoacanthocytosis These resources from MedlinePlus offer information about the diagnosis and m " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cranioectodermal dysplasia ? ### Response: Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cranioectodermal dysplasia ? ### Response: Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: Is cranioectodermal dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cranioectodermal dysplasia ? ### Response: These resources address the diagnosis or management of cranioectodermal dysplasia: - Gene Review: Gene Review: Cranioectodermal Dysplasia - Genetic Testing Registry: Cranioectodermal dysplasia 1 - Genetic Testing Registry: Cranioectodermal dysplasia 2 - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? ### Response: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? ### Response: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? ### Response: These resources address the diagnosis or management of XMEN: - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - MedlinePlus Encyclopedia: T Cell Count These resources from MedlinePlus offer information about the diagnosis and management of various he " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aminoacylase 1 deficiency ? ### Response: Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aminoacylase 1 deficiency ? ### Response: Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to aminoacylase 1 deficiency ? ### Response: Aminoacylase 1 deficiency is caused by mutations in the ACY1 gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of proteins when they are no longer needed. Many proteins in the body have an acetyl group attached to one end. " "Below is an instruction from Human. Write a response. ### Instruction: Is aminoacylase 1 deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aminoacylase 1 deficiency ? ### Response: These resources address the diagnosis or management of aminoacylase 1 deficiency: - Genetic Testing Registry: Aminoacylase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mannose-binding lectin deficiency ? ### Response: Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by mannose-binding lectin deficiency ? ### Response: Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. The condition is more common in certain populations, such as sub-Saharan Africans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mannose-binding lectin deficiency ? ### Response: Relatively common mutations in the MBL2 gene can lead to mannose-binding lectin deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding lectin. Functional mannose-binding lectins are made up of two to six protein groups called trimers, which are each composed of three of the protein pieces (subunits) produced from the MBL2 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is mannose-binding lectin deficiency inherited ? ### Response: The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mannose-binding lectin deficiency ? ### Response: These resources address the diagnosis or management of mannose-binding lectin deficiency: - Genetic Testing Registry: Mannose-binding protein deficiency These resources from MedlinePlus offer information about the diagnosis and management of various heal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile systemic hyalinosis ? ### Response: Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within the first few months of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile systemic hyalinosis ? ### Response: Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within the first few months of life. " "Below is an instruction from Human. Write a response. ### Instruction: Is infantile systemic hyalinosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for infantile systemic hyalinosis ? ### Response: These resources address the diagnosis or management of infantile systemic hyalinosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome - MedlinePlus Encyclopedia: Protein-losing enteropa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) polycythemia vera ? ### Response: Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) polycythemia vera ? ### Response: Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to polycythemia vera ? ### Response: Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. Although it remains unclear exactly what initiates polycythemia vera, researchers believe that it begins when mutations occur in the DNA of a hematopoietic stem cell. These stem cells are located in the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. " "Below is an instruction from Human. Write a response. ### Instruction: Is polycythemia vera inherited ? ### Response: Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In rare instances, polycythemia vera has been found to run in families. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for polycythemia vera ? ### Response: These resources address the diagnosis or management of polycythemia vera: - Genetic Testing Registry: Polycythemia vera - MPN Research Foundation: Diagnosis - MedlinePlus Encyclopedia: Polycythemia Vera These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive congenital methemoglobinemia ? ### Response: Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autosomal recessive congenital methemoglobinemia ? ### Response: Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive congenital methemoglobinemia ? ### Response: Autosomal recessive congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an enzyme called cytochrome b5 reductase 3. This enzyme is involved in transferring negatively charged particles called electrons from one molecule to another. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive congenital methemoglobinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive congenital methemoglobinemia ? ### Response: These resources address the diagnosis or management of autosomal recessive congenital methemoglobinemia: - Genetic Testing Registry: METHEMOGLOBINEMIA, TYPE I - Genetic Testing Registry: Methemoglobinemia type 2 - KidsHealth from Nemours: Blood Test: Hem " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hystrix-like ichthyosis with deafness ? ### Response: Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hystrix-like ichthyosis with deafness ? ### Response: Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills. " "Below is an instruction from Human. Write a response. ### Instruction: Is hystrix-like ichthyosis with deafness inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hystrix-like ichthyosis with deafness ? ### Response: These resources address the diagnosis or management of hystrix-like ichthyosis with deafness: - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix - Genetic Testing Registry: Hystrix-like ichthyosis with deafness These resources from M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 48,XXYY syndrome ? ### Response: 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. 48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 48,XXYY syndrome ? ### Response: 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. 48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 48,XXYY syndrome ? ### Response: 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. " "Below is an instruction from Human. Write a response. ### Instruction: Is 48,XXYY syndrome inherited ? ### Response: This condition is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 48,XXYY syndrome ? ### Response: These resources address the diagnosis or management of 48,XXYY syndrome: - Genetic Testing Registry: XXYY syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked spondyloepiphyseal dysplasia tarda ? ### Response: X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked spondyloepiphyseal dysplasia tarda ? ### Response: X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked spondyloepiphyseal dysplasia tarda inherited ? ### Response: X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked spondyloepiphyseal dysplasia tarda ? ### Response: These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda: - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda These resources fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fuchs endothelial dystrophy ? ### Response: Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Fuchs endothelial dystrophy ? ### Response: The late-onset form of Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40. The early-onset variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is unknown. For reasons that are unclear, women are affected with Fuchs endothelial dystrophy somewhat more frequently than men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Fuchs endothelial dystrophy ? ### Response: The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified regions of a few chromosomes and several genes that they think may play a role in the development of Fuchs endothelial dystrophy, but many of these associations need to be further tested. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fuchs endothelial dystrophy inherited ? ### Response: In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fuchs endothelial dystrophy ? ### Response: These resources address the diagnosis or management of Fuchs endothelial dystrophy: - Duke Eye Center: Corneal Disease - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weyers acrofacial dysostosis ? ### Response: Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weyers acrofacial dysostosis ? ### Response: Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Weyers acrofacial dysostosis ? ### Response: Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. " "Below is an instruction from Human. Write a response. ### Instruction: Is Weyers acrofacial dysostosis inherited ? ### Response: Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Weyers acrofacial dysostosis ? ### Response: These resources address the diagnosis or management of Weyers acrofacial dysostosis: - Genetic Testing Registry: Curry-Hall syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phenylketonuria ? ### Response: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by phenylketonuria ? ### Response: The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to phenylketonuria ? ### Response: Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively. " "Below is an instruction from Human. Write a response. ### Instruction: Is phenylketonuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for phenylketonuria ? ### Response: These resources address the diagnosis or management of phenylketonuria: - Baby's First Test - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency - Genetic Testing Registry: Phenylketonuria - MedlinePlus Encyclopedia: Phenylketonuria - Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple sclerosis ? ### Response: Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by multiple sclerosis ? ### Response: An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple sclerosis ? ### Response: Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple sclerosis inherited ? ### Response: The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple sclerosis ? ### Response: These resources address the diagnosis or management of multiple sclerosis: - Gene Review: Gene Review: Multiple Sclerosis Overview - Multiple Sclerosis Association of America: Treatments for MS - Multiple Sclerosis International Federation: About MS--Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retinitis pigmentosa ? ### Response: Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retinitis pigmentosa ? ### Response: Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to retinitis pigmentosa ? ### Response: Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is retinitis pigmentosa inherited ? ### Response: Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for retinitis pigmentosa ? ### Response: These resources address the diagnosis or management of retinitis pigmentosa: - American Foundation for the Blind: Living with Vision Loss - Foundation Fighting Blindness: Treatment of Retinitis Pigmentosa - Gene Review: Gene Review: Retinitis Pigmentosa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stormorken syndrome ? ### Response: Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stormorken syndrome ? ### Response: Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Stormorken syndrome ? ### Response: Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. " "Below is an instruction from Human. Write a response. ### Instruction: Is Stormorken syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stormorken syndrome ? ### Response: These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Down syndrome ? ### Response: Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Down syndrome ? ### Response: Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Down syndrome ? ### Response: Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: Is Down syndrome inherited ? ### Response: Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Down syndrome ? ### Response: These resources address the diagnosis or management of Down syndrome: - GeneFacts: Down Syndrome: Diagnosis - GeneFacts: Down Syndrome: Management - Genetic Testing Registry: Complete trisomy 21 syndrome - National Down Syndrome Congress: Health Care - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) desmosterolosis ? ### Response: Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) desmosterolosis ? ### Response: Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to desmosterolosis ? ### Response: Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). " "Below is an instruction from Human. Write a response. ### Instruction: Is desmosterolosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for desmosterolosis ? ### Response: These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kufs disease ? ### Response: Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kufs disease ? ### Response: Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kufs disease ? ### Response: Mutations in the CLN6 or PPT1 gene cause Kufs disease type A, and mutations in the DNAJC5 or CTSF gene cause Kufs disease type B. Most of the proteins or enzymes produced from these genes are involved in breaking down proteins or clearing unneeded materials from cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kufs disease inherited ? ### Response: Kufs disease type A, caused by mutations in the CLN6 or PPT1 gene, has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kufs disease ? ### Response: These resources address the diagnosis or management of Kufs disease: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 4B " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COG5-congenital disorder of glycosylation ? ### Response: COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COG5-congenital disorder of glycosylation ? ### Response: COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to COG5-congenital disorder of glycosylation ? ### Response: COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. " "Below is an instruction from Human. Write a response. ### Instruction: Is COG5-congenital disorder of glycosylation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for COG5-congenital disorder of glycosylation ? ### Response: These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nephronophthisis ? ### Response: Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by nephronophthisis ? ### Response: Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nephronophthisis ? ### Response: Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is nephronophthisis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nephronophthisis ? ### Response: These resources address the diagnosis or management of nephronophthisis: - Genetic Testing Registry: Adolescent nephronophthisis - Genetic Testing Registry: Infantile nephronophthisis - Genetic Testing Registry: Nephronophthisis - Genetic Testing Regist " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial adenomatous polyposis ? ### Response: Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial adenomatous polyposis ? ### Response: Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial adenomatous polyposis ? ### Response: Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial adenomatous polyposis inherited ? ### Response: Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial adenomatous polyposis ? ### Response: These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) carnitine palmitoyltransferase II deficiency ? ### Response: Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by carnitine palmitoyltransferase II deficiency ? ### Response: CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to carnitine palmitoyltransferase II deficiency ? ### Response: Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is carnitine palmitoyltransferase II deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for carnitine palmitoyltransferase II deficiency ? ### Response: These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Revie " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked thrombocytopenia ? ### Response: X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked thrombocytopenia ? ### Response: X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked thrombocytopenia ? ### Response: Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked thrombocytopenia inherited ? ### Response: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked thrombocytopenia ? ### Response: These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary cerebral amyloid angiopathy ? ### Response: Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary cerebral amyloid angiopathy ? ### Response: Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary cerebral amyloid angiopathy ? ### Response: Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in the ITM2B gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary cerebral amyloid angiopathy inherited ? ### Response: Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary cerebral amyloid angiopathy ? ### Response: These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type III ? ### Response: Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by glycogen storage disease type III ? ### Response: The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected. GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type III ? ### Response: Mutations in the AGL gene cause GSDIII. The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, which is a major source of stored energy in the body. Between meals the body breaks down stores of energy, such as glycogen, to use for fuel. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type III inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type III ? ### Response: These resources address the diagnosis or management of glycogen storage disease type III: - Gene Review: Gene Review: Glycogen Storage Disease Type III - Genetic Testing Registry: Glycogen storage disease type III These resources from MedlinePlus offer " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) van der Woude syndrome ? ### Response: Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by van der Woude syndrome ? ### Response: Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to van der Woude syndrome ? ### Response: Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is van der Woude syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for van der Woude syndrome ? ### Response: These resources address the diagnosis or management of van der Woude syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Van der Woude syndrome These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign familial neonatal seizures ? ### Response: Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) benign familial neonatal seizures ? ### Response: Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to benign familial neonatal seizures ? ### Response: Mutations in two genes, KCNQ2 and KCNQ3, have been found to cause BFNS. Mutations in the KCNQ2 gene are a much more common cause of the condition than mutations in the KCNQ3 gene. The KCNQ2 and KCNQ3 genes provide instructions for making proteins that interact to form potassium channels. " "Below is an instruction from Human. Write a response. ### Instruction: Is benign familial neonatal seizures inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few cases result from new mutations in the KCNQ2 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for benign familial neonatal seizures ? ### Response: These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Emery-Dreifuss muscular dystrophy ? ### Response: Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Emery-Dreifuss muscular dystrophy ? ### Response: X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Emery-Dreifuss muscular dystrophy ? ### Response: Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular dystrophy. The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Emery-Dreifuss muscular dystrophy inherited ? ### Response: Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Emery-Dreifuss muscular dystrophy ? ### Response: These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy: - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy - Genetic Testing Registry: Emery-Dreifu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 16p11.2 deletion syndrome ? ### Response: 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by 16p11.2 deletion syndrome ? ### Response: Most people tested for the 16p11.2 deletion have come to medical attention as a result of developmental delay or autistic behaviors. Other individuals with the 16p11.2 deletion have no associated health or behavioral problems, and so the deletion may never be detected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 16p11.2 deletion syndrome ? ### Response: People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is 16p11.2 deletion syndrome inherited ? ### Response: 16p11.2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each cell is sufficient to cause the condition. However, most cases of 16p11.2 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 16p11.2 deletion syndrome ? ### Response: These resources address the diagnosis or management of 16p11.2 deletion syndrome: - Gene Review: Gene Review: 16p11.2 Recurrent Microdeletion - Genetic Testing Registry: 16p11.2 deletion syndrome - Genetic Testing Registry: Autism, susceptibility to, 14a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) early-onset glaucoma ? ### Response: Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by early-onset glaucoma ? ### Response: Primary congenital glaucoma affects approximately 1 in 10,000 people. Its frequency is higher in the Middle East. Juvenile open-angle glaucoma affects about 1 in 50,000 people. Primary open-angle glaucoma is much more common after the age of 40, affecting about 1 percent of the population worldwide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to early-onset glaucoma ? ### Response: Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma. The MYOC gene provides instructions for producing a protein called myocilin. " "Below is an instruction from Human. Write a response. ### Instruction: Is early-onset glaucoma inherited ? ### Response: Early-onset glaucoma can have different inheritance patterns. Primary congenital glaucoma is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for early-onset glaucoma ? ### Response: These resources address the diagnosis or management of early-onset glaucoma: - Gene Review: Gene Review: Primary Congenital Glaucoma - Genetic Testing Registry: Glaucoma, congenital - Genetic Testing Registry: Primary open angle glaucoma juvenile onset 1 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) very long-chain acyl-CoA dehydrogenase deficiency ? ### Response: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) very long-chain acyl-CoA dehydrogenase deficiency ? ### Response: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to very long-chain acyl-CoA dehydrogenase deficiency ? ### Response: Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is very long-chain acyl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for very long-chain acyl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of VLCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Very long chain acyl-CoA dehydrogenase deficienc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial HDL deficiency ? ### Response: Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial HDL deficiency ? ### Response: Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial HDL deficiency ? ### Response: Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells. The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the cell membrane. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial HDL deficiency inherited ? ### Response: Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial HDL deficiency ? ### Response: These resources address the diagnosis or management of familial HDL deficiency: - Genetic Testing Registry: Familial hypoalphalipoproteinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? ### Response: The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body. Most affected individuals grow slowly before birth (intrauterine growth restriction) and are small in infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? ### Response: IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies inherited ? ### Response: The inheritance of IMAGe syndrome is complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered CDKN1C gene in each cell is sufficient to cause the disorder. However, because this gene is paternally imprinted, IMAGe syndrome results only when the mutation is present on the maternally inherited copy of the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? ### Response: These resources address the diagnosis or management of IMAGe syndrome: - Gene Review: Gene Review: IMAGe Syndrome - Genetic Testing Registry: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies - Na " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal hereditary motor neuropathy, type II ? ### Response: Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs. Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal hereditary motor neuropathy, type II ? ### Response: Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs. Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to distal hereditary motor neuropathy, type II ? ### Response: Mutations in the HSPB1 and HSPB8 genes cause distal hereditary motor neuropathy, type II. These genes provide instructions for making proteins called heat shock protein beta-1 and heat shock protein beta-8. Heat shock proteins help protect cells under adverse conditions such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to distal hereditary motor neuropathy, type II ? ### Response: Mutations in the HSPB1 and HSPB8 genes cause distal hereditary motor neuropathy, type II. These genes provide instructions for making proteins called heat shock protein beta-1 and heat shock protein beta-8. Heat shock proteins help protect cells under adverse conditions such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for distal hereditary motor neuropathy, type II ? ### Response: These resources address the diagnosis or management of distal hereditary motor neuropathy, type II: - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2A - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2B - Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary hyperoxaluria ? ### Response: Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary hyperoxaluria ? ### Response: Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary hyperoxaluria ? ### Response: Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. " "Below is an instruction from Human. Write a response. ### Instruction: Is primary hyperoxaluria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary hyperoxaluria ? ### Response: These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Ge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? ### Response: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? ### Response: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? ### Response: Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? ### Response: Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? ### Response: These resources address the diagnosis or management of HANAC syndrome: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) African iron overload ? ### Response: African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by African iron overload ? ### Response: African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and gender differences in the processing of iron. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to African iron overload ? ### Response: African iron overload was first noted in rural central and southern African populations among people who drink a traditional beer brewed in uncoated steel drums that allow iron (a component of steel) to leach into the beer. However, not all individuals who drink the beer develop African iron overload, and not all individuals of African descent with iron overload drink the beer. " "Below is an instruction from Human. Write a response. ### Instruction: Is African iron overload inherited ? ### Response: African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for African iron overload ? ### Response: These resources address the diagnosis or management of African iron overload: - Genetic Testing Registry: African nutritional hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary multiple osteochondromas ? ### Response: Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hereditary multiple osteochondromas ? ### Response: The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary multiple osteochondromas ? ### Response: Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary multiple osteochondromas ? ### Response: Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary multiple osteochondromas ? ### Response: These resources address the diagnosis or management of hereditary multiple osteochondromas: - Gene Review: Gene Review: Hereditary Multiple Osteochondromas - Genetic Testing Registry: Multiple congenital exostosis - Genetic Testing Registry: Multiple exo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Partington syndrome ? ### Response: Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Partington syndrome ? ### Response: Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Partington syndrome ? ### Response: Partington syndrome is caused by mutations in the ARX gene. This gene provides instructions for producing a protein that regulates the activity of other genes. Within the developing brain, the ARX protein is involved with movement (migration) and communication of nerve cells (neurons). " "Below is an instruction from Human. Write a response. ### Instruction: Is Partington syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Partington syndrome ? ### Response: These resources address the diagnosis or management of Partington syndrome: - American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs - American Academy of Pediatrics: What is a Developmental/Behavioral Pedi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ? ### Response: Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ? ### Response: Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital deafness with labyrinthine aplasia, microtia, and microdontia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital deafness with labyrinthine aplasia, microtia, and microdontia ? ### Response: These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdon " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myosin storage myopathy ? ### Response: Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myosin storage myopathy ? ### Response: Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myosin storage myopathy ? ### Response: Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses for movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myosin storage myopathy ? ### Response: Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses for movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myosin storage myopathy ? ### Response: These resources address the diagnosis or management of myosin storage myopathy: - Genetic Testing Registry: Myosin storage myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) citrullinemia ? ### Response: Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes. Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by citrullinemia ? ### Response: Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from East Asia and the Middle East. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to citrullinemia ? ### Response: Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is citrullinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for citrullinemia ? ### Response: These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ophthalmo-acromelic syndrome ? ### Response: Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ophthalmo-acromelic syndrome ? ### Response: Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ophthalmo-acromelic syndrome ? ### Response: Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: Is ophthalmo-acromelic syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ophthalmo-acromelic syndrome ? ### Response: These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies These resources from MedlinePlus offer information about the diagnosis and management of various health cond " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 2 ? ### Response: Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 2 ? ### Response: Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 2 inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 2 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2-hydroxyglutaric aciduria ? ### Response: 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2-hydroxyglutaric aciduria ? ### Response: 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). " "Below is an instruction from Human. Write a response. ### Instruction: Is 2-hydroxyglutaric aciduria inherited ? ### Response: D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 2-hydroxyglutaric aciduria ? ### Response: These resources address the diagnosis or management of 2-hydroxyglutaric aciduria: - Genetic Testing Registry: Combined d-2- and l-2-hydroxyglutaric aciduria - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 - Genetic Testing Registry: D-2-hydro " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Robinow syndrome ? ### Response: Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the bones. Researchers have identified two major types of Robinow syndrome. The types are distinguished by the severity of their signs and symptoms and by their pattern of inheritance, autosomal recessive or autosomal dominant. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Robinow syndrome ? ### Response: Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare. Fewer than 200 people with autosomal recessive Robinow syndrome have been described in the medical literature. This form of the condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and Brazil. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Robinow syndrome ? ### Response: Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Robinow syndrome inherited ? ### Response: As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Robinow syndrome ? ### Response: These resources address the diagnosis or management of Robinow syndrome: - Gene Review: Gene Review: Autosomal Dominant Robinow Syndrome - Gene Review: Gene Review: ROR2-Related Robinow Syndrome - Genetic Testing Registry: Robinow syndrome - University " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bannayan-Riley-Ruvalcaba syndrome ? ### Response: Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Bannayan-Riley-Ruvalcaba syndrome ? ### Response: The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bannayan-Riley-Ruvalcaba syndrome ? ### Response: About 60 percent of all cases of Bannayan-Riley-Ruvalcaba syndrome result from mutations in the PTEN gene. Another 10 percent of cases are caused by a large deletion of genetic material that includes part or all of this gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally prevents cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bannayan-Riley-Ruvalcaba syndrome ? ### Response: These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aromatic l-amino acid decarboxylase deficiency ? ### Response: Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). " "Below is an instruction from Human. Write a response. ### Instruction: Is aromatic l-amino acid decarboxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aromatic l-amino acid decarboxylase deficiency ? ### Response: These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency: - Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase These resources from MedlinePlus offer information about the diagnosis an " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tubular aggregate myopathy ? ### Response: Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can also be involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tubular aggregate myopathy ? ### Response: Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can also be involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tubular aggregate myopathy ? ### Response: Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. " "Below is an instruction from Human. Write a response. ### Instruction: Is tubular aggregate myopathy inherited ? ### Response: Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tubular aggregate myopathy ? ### Response: These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates These resources from MedlinePlus offer information about the diagnosis and management of various health condit " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arginine:glycine amidinotransferase deficiency ? ### Response: Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) arginine:glycine amidinotransferase deficiency ? ### Response: Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to arginine:glycine amidinotransferase deficiency ? ### Response: Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. " "Below is an instruction from Human. Write a response. ### Instruction: Is arginine:glycine amidinotransferase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for arginine:glycine amidinotransferase deficiency ? ### Response: These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Arginine:glycine amidinotransferase deficiency These resources f " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tangier disease ? ### Response: Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tangier disease ? ### Response: Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Tangier disease ? ### Response: Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tangier disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tangier disease ? ### Response: These resources address the diagnosis or management of Tangier disease: - Genetic Testing Registry: Tangier disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) prekallikrein deficiency ? ### Response: Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by prekallikrein deficiency ? ### Response: The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to prekallikrein deficiency ? ### Response: Prekallikrein deficiency is caused by mutations in the KLKB1 gene, which provides instructions for making a protein called prekallikrein. This protein, when converted to an active form called plasma kallikrein in the blood, is involved in the early stages of blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: Is prekallikrein deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for prekallikrein deficiency ? ### Response: These resources address the diagnosis or management of prekallikrein deficiency: - Genetic Testing Registry: Prekallikrein deficiency - Massachusetts General Hospital Laboratory Handbook: Prekallikrein These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital generalized lipodystrophy ? ### Response: Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital generalized lipodystrophy ? ### Response: Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital generalized lipodystrophy ? ### Response: Mutations in the AGPAT2, BSCL2, CAV1, and PTRF genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital generalized lipodystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital generalized lipodystrophy ? ### Response: These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myoclonic epilepsy with ragged-red fibers ? ### Response: Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myoclonic epilepsy with ragged-red fibers ? ### Response: Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: Is myoclonic epilepsy with ragged-red fibers inherited ? ### Response: MERRF is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myoclonic epilepsy with ragged-red fibers ? ### Response: These resources address the diagnosis or management of MERRF: - Gene Review: Gene Review: MERRF - Genetic Testing Registry: Myoclonus with epilepsy with ragged red fibers - Kennedy Krieger Institute: Mitochondrial Disorders - MedlinePlus Encyclopedia: L " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiminicore disease ? ### Response: Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Researchers have identified at least four forms of multiminicore disease, which can be distinguished by their characteristic signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiminicore disease ? ### Response: Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Researchers have identified at least four forms of multiminicore disease, which can be distinguished by their characteristic signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiminicore disease ? ### Response: Mutations in the RYR1 and SEPN1 genes cause multiminicore disease. The severe, classic form of multiminicore disease is usually caused by mutations in the SEPN1 gene. This gene provides instructions for making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may play a role in the formation of muscle tissue before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiminicore disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiminicore disease ? ### Response: These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, ant " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) episodic ataxia ? ### Response: Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) episodic ataxia ? ### Response: Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to episodic ataxia ? ### Response: Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. " "Below is an instruction from Human. Write a response. ### Instruction: Is episodic ataxia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for episodic ataxia ? ### Response: These resources address the diagnosis or management of episodic ataxia: - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) - Gene Review: Gene Review: Episodic Ataxia Type 1 - Gene Review: Gene Review: Episodic Ataxia Type 2 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyruvate dehydrogenase deficiency ? ### Response: Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pyruvate dehydrogenase deficiency ? ### Response: Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pyruvate dehydrogenase deficiency ? ### Response: The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. " "Below is an instruction from Human. Write a response. ### Instruction: Is pyruvate dehydrogenase deficiency inherited ? ### Response: Pyruvate dehydrogenase deficiency can have different inheritance patterns. When the condition is caused by mutations in the PDHA1 gene, it is inherited in an X-linked recessive pattern. The PDHA1 gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pyruvate dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of pyruvate dehydrogenase deficiency: - Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency - Genetic Testing Registry: P " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoglycerate mutase deficiency ? ### Response: Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoglycerate mutase deficiency ? ### Response: Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to phosphoglycerate mutase deficiency ? ### Response: Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is phosphoglycerate mutase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for phosphoglycerate mutase deficiency ? ### Response: These resources address the diagnosis or management of phosphoglycerate mutase deficiency: - Genetic Testing Registry: Glycogen storage disease type X These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lenz microphthalmia syndrome ? ### Response: Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lenz microphthalmia syndrome ? ### Response: Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lenz microphthalmia syndrome ? ### Response: Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lenz microphthalmia syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lenz microphthalmia syndrome ? ### Response: These resources address the diagnosis or management of Lenz microphthalmia syndrome: - Gene Review: Gene Review: Lenz Microphthalmia Syndrome - Genetic Testing Registry: Lenz microphthalmia syndrome These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prader-Willi syndrome ? ### Response: Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prader-Willi syndrome ? ### Response: Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Prader-Willi syndrome ? ### Response: Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). " "Below is an instruction from Human. Write a response. ### Instruction: Is Prader-Willi syndrome inherited ? ### Response: Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prader-Willi syndrome ? ### Response: These resources address the diagnosis or management of Prader-Willi syndrome: - Gene Review: Gene Review: Prader-Willi Syndrome - Genetic Testing Registry: Prader-Willi syndrome - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Prader-Wi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson disease ? ### Response: Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Parkinson disease ? ### Response: Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, and the risk of developing this condition increases with age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Parkinson disease ? ### Response: Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. The cause of these sporadic cases remains unclear. " "Below is an instruction from Human. Write a response. ### Instruction: Is Parkinson disease inherited ? ### Response: Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha thalassemia X-linked intellectual disability syndrome ? ### Response: Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alpha thalassemia X-linked intellectual disability syndrome ? ### Response: Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alpha thalassemia X-linked intellectual disability syndrome ? ### Response: Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is alpha thalassemia X-linked intellectual disability syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alpha thalassemia X-linked intellectual disability syndrome ? ### Response: These resources address the diagnosis or management of alpha thalassemia X-linked intellectual disability syndrome: - Gene Review: Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - Genetic Testing Registry: ATR-X syndrome - Medli " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atypical hemolytic-uremic syndrome ? ### Response: Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atypical hemolytic-uremic syndrome ? ### Response: Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to atypical hemolytic-uremic syndrome ? ### Response: Atypical hemolytic-uremic syndrome often results from a combination of environmental and genetic factors. Mutations in at least seven genes appear to increase the risk of developing the disorder. Mutations in a gene called CFH are most common; they have been found in about 30 percent of all cases of atypical hemolytic-uremic syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is atypical hemolytic-uremic syndrome inherited ? ### Response: Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for atypical hemolytic-uremic syndrome ? ### Response: These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ALG1-congenital disorder of glycosylation ? ### Response: ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ALG1-congenital disorder of glycosylation ? ### Response: ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ALG1-congenital disorder of glycosylation ? ### Response: Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). " "Below is an instruction from Human. Write a response. ### Instruction: Is ALG1-congenital disorder of glycosylation inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ALG1-congenital disorder of glycosylation ? ### Response: These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) intestinal pseudo-obstruction ? ### Response: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) intestinal pseudo-obstruction ? ### Response: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to intestinal pseudo-obstruction ? ### Response: In some individuals with primary intestinal pseudo-obstruction, the condition is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is intestinal pseudo-obstruction inherited ? ### Response: Intestinal pseudo-obstruction is often not inherited. When it does run in families, it can have different inheritance patterns. Intestinal pseudo-obstruction caused by FLNA gene mutations is inherited in an X-linked recessive pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for intestinal pseudo-obstruction ? ### Response: These resources address the diagnosis or management of intestinal pseudo-obstruction: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked - Genetic Testing Registry: Natal teet " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ? ### Response: Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ? ### Response: Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. " "Below is an instruction from Human. Write a response. ### Instruction: Is autosomal recessive axonal neuropathy with neuromyotonia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ? ### Response: These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia: - Genetic Testing Registry: Gamstorp-Wohlfart syndrome These resources from MedlinePlus offer information about the diagnosis and management " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia-telangiectasia ? ### Response: Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia-telangiectasia ? ### Response: Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ataxia-telangiectasia ? ### Response: Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system. " "Below is an instruction from Human. Write a response. ### Instruction: Is ataxia-telangiectasia inherited ? ### Response: Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ataxia-telangiectasia ? ### Response: These resources address the diagnosis or management of ataxia-telangiectasia: - Gene Review: Gene Review: Ataxia-Telangiectasia - Genetic Testing Registry: Ataxia-telangiectasia syndrome - MedlinePlus Encyclopedia: Ataxia-Telangiectasia These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) choroideremia ? ### Response: Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by choroideremia ? ### Response: The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to choroideremia ? ### Response: Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles). " "Below is an instruction from Human. Write a response. ### Instruction: Is choroideremia inherited ? ### Response: Choroideremia is inherited in an X-linked recessive pattern. The CHM gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for choroideremia ? ### Response: These resources address the diagnosis or management of choroideremia: - Gene Review: Gene Review: Choroideremia - Genetic Testing Registry: Choroideremia - MedlinePlus Encyclopedia: Vision - night blindness - MedlinePlus Encyclopedia: Visual field The " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pulmonary veno-occlusive disease ? ### Response: Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by pulmonary veno-occlusive disease ? ### Response: The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed as idiopathic pulmonary arterial hypertension, which is increased blood pressure in the pulmonary arteries without a known cause. Research suggests that 5 to 25 percent of people diagnosed with idiopathic pulmonary arterial hypertension have PVOD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to pulmonary veno-occlusive disease ? ### Response: The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. " "Below is an instruction from Human. Write a response. ### Instruction: Is pulmonary veno-occlusive disease inherited ? ### Response: When caused by mutations in the EIF2AK4 gene, PVOD is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pulmonary veno-occlusive disease ? ### Response: These resources address the diagnosis or management of pulmonary veno-occlusive disease: - Genetic Testing Registry: Pulmonary veno-occlusive disease These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Thera " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) distal arthrogryposis type 1 ? ### Response: Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term ""arthrogryposis"" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to distal arthrogryposis type 1 ? ### Response: Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). " "Below is an instruction from Human. Write a response. ### Instruction: Is distal arthrogryposis type 1 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for distal arthrogryposis type 1 ? ### Response: These resources address the diagnosis or management of distal arthrogryposis type 1: - Genetic Testing Registry: Arthrogryposis multiplex congenita distal type 1 - Merck Manual for Health Care Professionals - New York University Langone Medical Center " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Saethre-Chotzen syndrome ? ### Response: Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Saethre-Chotzen syndrome ? ### Response: Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Saethre-Chotzen syndrome ? ### Response: Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Saethre-Chotzen syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Saethre-Chotzen syndrome ? ### Response: These resources address the diagnosis or management of Saethre-Chotzen syndrome: - Gene Review: Gene Review: Saethre-Chotzen Syndrome - Genetic Testing Registry: Robinow Sorauf syndrome - Genetic Testing Registry: Saethre-Chotzen syndrome - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis III gamma ? ### Response: Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucolipidosis III gamma ? ### Response: Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucolipidosis III gamma ? ### Response: Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making one part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucolipidosis III gamma inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucolipidosis III gamma ? ### Response: These resources address the diagnosis or management of mucolipidosis III gamma: - Gene Review: Gene Review: Mucolipidosis III Gamma - Genetic Testing Registry: Mucolipidosis III Gamma - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neonatal onset multisystem inflammatory disease ? ### Response: Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neonatal onset multisystem inflammatory disease ? ### Response: Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neonatal onset multisystem inflammatory disease ? ### Response: Mutations in the NLRP3 gene (also known as CIAS1) cause NOMID. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is neonatal onset multisystem inflammatory disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neonatal onset multisystem inflammatory disease ? ### Response: These resources address the diagnosis or management of NOMID: - Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome These resources from MedlinePlus offer information about the diagnosis and management of various he " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ewing sarcoma ? ### Response: Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Ewing sarcoma ? ### Response: Approximately 3 per 1 million children each year are diagnosed with a Ewing sarcoma. It is estimated that, in the United States, 250 children are diagnosed with one of these types of tumor each year. Ewing sarcoma accounts for about 1.5 percent of all childhood cancers, and it is the second most common type of bone tumor in children (the most common type of bone cancer is called osteosarcoma). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ewing sarcoma ? ### Response: The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ewing sarcoma ? ### Response: The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ewing sarcoma ? ### Response: These resources address the diagnosis or management of Ewing sarcoma: - Cancer.Net: Ewing Family of Tumors - Childhood: Diagnosis - Cancer.Net: Ewing Family of Tumors - Childhood: Treatment - Genetic Testing Registry: Ewing's sarcoma - MedlinePlus Encyc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) otopalatodigital syndrome type 1 ? ### Response: Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) otopalatodigital syndrome type 1 ? ### Response: Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to otopalatodigital syndrome type 1 ? ### Response: Mutations in the FLNA gene cause otopalatodigital syndrome type 1. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is otopalatodigital syndrome type 1 inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for otopalatodigital syndrome type 1 ? ### Response: These resources address the diagnosis or management of otopalatodigital syndrome type 1: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type I These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autoimmune Addison disease ? ### Response: Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autoimmune Addison disease ? ### Response: Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autoimmune Addison disease ? ### Response: The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition. The genes that have been associated with autoimmune Addison disease participate in the body's immune response. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autoimmune Addison disease ? ### Response: The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition. The genes that have been associated with autoimmune Addison disease participate in the body's immune response. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autoimmune Addison disease ? ### Response: These resources address the diagnosis or management of autoimmune Addison disease: - Genetic Testing Registry: Addison's disease - MedlinePlus Encyclopedia: Addison's Disease These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gorlin syndrome ? ### Response: Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gorlin syndrome ? ### Response: Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Gorlin syndrome ? ### Response: Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gorlin syndrome inherited ? ### Response: Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the PTCH1 gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gorlin syndrome ? ### Response: These resources address the diagnosis or management of Gorlin syndrome: - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources f " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial hemiplegic migraine ? ### Response: Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by familial hemiplegic migraine ? ### Response: The worldwide prevalence of familial hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the condition (sporadic hemiplegic migraine). " "Below is an instruction from Human. Write a response. ### Instruction: Is familial hemiplegic migraine inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, affected individuals have one affected parent. However, some people who inherit an altered gene never develop features of familial hemiplegic migraine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial hemiplegic migraine ? ### Response: These resources address the diagnosis or management of familial hemiplegic migraine: - Gene Review: Gene Review: Familial Hemiplegic Migraine - Genetic Testing Registry: Familial hemiplegic migraine - Genetic Testing Registry: Familial hemiplegic migrain " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) protein S deficiency ? ### Response: Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) protein S deficiency ? ### Response: Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to protein S deficiency ? ### Response: Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots. " "Below is an instruction from Human. Write a response. ### Instruction: Is protein S deficiency inherited ? ### Response: Protein S deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROS1 gene in each cell is sufficient to cause mild protein S deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein S deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for protein S deficiency ? ### Response: These resources address the diagnosis or management of protein S deficiency: - Genetic Testing Registry: Protein S deficiency - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) narcolepsy ? ### Response: Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence. Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by narcolepsy ? ### Response: Narcolepsy affects about 1 in 2,000 people in the United States and Western Europe. However, the disorder is likely underdiagnosed, particularly in people with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, where it affects an estimated 1 in 600 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to narcolepsy ? ### Response: Narcolepsy probably results from a combination of genetic and environmental factors, some of which have been identified, but many of which remain unknown. In most cases of narcolepsy with cataplexy, and in some cases without cataplexy, sleep abnormalities result from a loss of particular brain cells (neurons) in a part of the brain called the hypothalamus. " "Below is an instruction from Human. Write a response. ### Instruction: Is narcolepsy inherited ? ### Response: Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for narcolepsy ? ### Response: These resources address the diagnosis or management of narcolepsy: - Genetic Testing Registry: Narcolepsy 1 - Genetic Testing Registry: Narcolepsy 2, susceptibility to - Genetic Testing Registry: Narcolepsy 3 - Genetic Testing Registry: Narcolepsy 4, su " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Troyer syndrome ? ### Response: Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Troyer syndrome ? ### Response: Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Troyer syndrome ? ### Response: Troyer syndrome is caused by a mutation in the SPG20 gene. The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). " "Below is an instruction from Human. Write a response. ### Instruction: Is Troyer syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Troyer syndrome ? ### Response: These resources address the diagnosis or management of Troyer syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Troyer Syndrome - Genetic Testing Registry: Troyer syndrome - Spastic Paraplegia Foundation, Inc. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microcephalic osteodysplastic primordial dwarfism type II ? ### Response: Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to microcephalic osteodysplastic primordial dwarfism type II ? ### Response: Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. " "Below is an instruction from Human. Write a response. ### Instruction: Is microcephalic osteodysplastic primordial dwarfism type II inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for microcephalic osteodysplastic primordial dwarfism type II ? ### Response: These resources address the diagnosis or management of MOPDII: - Genetic Testing Registry: Microcephalic osteodysplastic primordial dwarfism type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health co " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) genitopatellar syndrome ? ### Response: Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) genitopatellar syndrome ? ### Response: Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to genitopatellar syndrome ? ### Response: Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. " "Below is an instruction from Human. Write a response. ### Instruction: Is genitopatellar syndrome inherited ? ### Response: This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for genitopatellar syndrome ? ### Response: These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) amyotrophic lateral sclerosis ? ### Response: Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by amyotrophic lateral sclerosis ? ### Response: About 5,000 people in the United States are diagnosed with ALS each year. Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small percentage of cases have a known genetic cause. Among the Chamorro people of Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more frequent than ALS is in other populations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to amyotrophic lateral sclerosis ? ### Response: Mutations in several genes can cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene account for 30 to 40 percent of familial ALS in the United States and Europe. Worldwide, SOD1 gene mutations cause 15 to 20 percent of familial ALS, and TARDBP and FUS gene mutations each account for about 5 percent of cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is amyotrophic lateral sclerosis inherited ? ### Response: About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for amyotrophic lateral sclerosis ? ### Response: These resources address the diagnosis or management of amyotrophic lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Gene Review: Gene Review: Amyotrophic Lateral Sclerosis Overview - Gene Review: Gene Review: C9orf72-Related Amyotr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) giant congenital melanocytic nevus ? ### Response: Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) giant congenital melanocytic nevus ? ### Response: Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to giant congenital melanocytic nevus ? ### Response: NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. " "Below is an instruction from Human. Write a response. ### Instruction: Is giant congenital melanocytic nevus inherited ? ### Response: This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for giant congenital melanocytic nevus ? ### Response: These resources address the diagnosis or management of giant congenital melanocytic nevus: - Cleveland Clinic: The Facts About Melanoma - Genetic Testing Registry: Giant pigmented hairy nevus - MedlinePlus Encyclopedia: Giant Congenital Nevus - Nevus Ou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cartilage-hair hypoplasia ? ### Response: Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by cartilage-hair hypoplasia ? ### Response: Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known. " "Below is an instruction from Human. Write a response. ### Instruction: Is cartilage-hair hypoplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cartilage-hair hypoplasia ? ### Response: These resources address the diagnosis or management of cartilage-hair hypoplasia: - Gene Review: Gene Review: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - Genetic Testing Registry: Metaphyseal chondrodysplasia, McKusick type Thes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Buschke-Ollendorff syndrome ? ### Response: Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Buschke-Ollendorff syndrome ? ### Response: Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Buschke-Ollendorff syndrome ? ### Response: Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. " "Below is an instruction from Human. Write a response. ### Instruction: Is Buschke-Ollendorff syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tissue nevi and osteopoikilosis, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Buschke-Ollendorff syndrome ? ### Response: These resources address the diagnosis or management of Buschke-Ollendorff syndrome: - Genetic Testing Registry: Dermatofibrosis lenticularis disseminata These resources from MedlinePlus offer information about the diagnosis and management of various heal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) granulomatosis with polyangiitis ? ### Response: Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is also commonly known as Wegener granulomatosis. A characteristic feature of GPA is inflammation of blood vessels (vasculitis), particularly the small- and medium-sized blood vessels in the lungs, nose, sinuses, windpipe, and kidneys, although vessels in any organ can be involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to granulomatosis with polyangiitis ? ### Response: The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to granulomatosis with polyangiitis ? ### Response: The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for granulomatosis with polyangiitis ? ### Response: These resources address the diagnosis or management of granulomatosis with polyangiitis: - Genetic Testing Registry: Wegener's granulomatosis - Johns Hopkins Vasculitis Center: How is Wegener's Granulomatosis Diagnosed? - MedlinePlus Encyclopedia: Wegene " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SLC4A1-associated distal renal tubular acidosis ? ### Response: SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SLC4A1-associated distal renal tubular acidosis ? ### Response: SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to SLC4A1-associated distal renal tubular acidosis ? ### Response: Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. This gene provides instructions for making the anion exchanger 1 (AE1) protein, which transports negatively charged atoms (anions) across cell membranes. " "Below is an instruction from Human. Write a response. ### Instruction: Is SLC4A1-associated distal renal tubular acidosis inherited ? ### Response: SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SLC4A1-associated distal renal tubular acidosis ? ### Response: These resources address the diagnosis or management of SLC4A1-associated distal renal tubular acidosis: - Genetic Testing Registry: Renal tubular acidosis, distal, autosomal dominant - Genetic Testing Registry: Renal tubular acidosis, distal, with hemolyt " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) infantile-onset spinocerebellar ataxia ? ### Response: Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to infantile-onset spinocerebellar ataxia ? ### Response: Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. " "Below is an instruction from Human. Write a response. ### Instruction: Is infantile-onset spinocerebellar ataxia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for infantile-onset spinocerebellar ataxia ? ### Response: These resources address the diagnosis or management of IOSCA: - Gene Review: Gene Review: Infantile-Onset Spinocerebellar Ataxia - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) These resources from MedlinePlus of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) androgenetic alopecia ? ### Response: Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic ""M"" shape. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by androgenetic alopecia ? ### Response: Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to androgenetic alopecia ? ### Response: A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. " "Below is an instruction from Human. Write a response. ### Instruction: Is androgenetic alopecia inherited ? ### Response: The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for androgenetic alopecia ? ### Response: These resources address the diagnosis or management of androgenetic alopecia: - Genetic Testing Registry: Baldness, male pattern - MedlinePlus Encyclopedia: Female Pattern Baldness - MedlinePlus Encyclopedia: Hair Loss - MedlinePlus Encyclopedia: Male P " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adolescent idiopathic scoliosis ? ### Response: Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated ""S"" or ""C"" shape; the bones of the spine are also slightly twisted or rotated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adolescent idiopathic scoliosis ? ### Response: Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated ""S"" or ""C"" shape; the bones of the spine are also slightly twisted or rotated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adolescent idiopathic scoliosis ? ### Response: The term ""idiopathic"" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not been identified. " "Below is an instruction from Human. Write a response. ### Instruction: Is adolescent idiopathic scoliosis inherited ? ### Response: Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adolescent idiopathic scoliosis ? ### Response: These resources address the diagnosis or management of adolescent idiopathic scoliosis: - Genetic Testing Registry: Scoliosis, idiopathic 1 - Genetic Testing Registry: Scoliosis, idiopathic 2 - Genetic Testing Registry: Scoliosis, idiopathic 3 - Nationa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Response: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. ""Polycystic lipomembranous osteodysplasia"" refers to cyst-like bone changes that can be seen on x-rays. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Response: PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries. " "Below is an instruction from Human. Write a response. ### Instruction: Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Response: These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclero " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aromatase excess syndrome ? ### Response: Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aromatase excess syndrome ? ### Response: Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to aromatase excess syndrome ? ### Response: Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. " "Below is an instruction from Human. Write a response. ### Instruction: Is aromatase excess syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means a genetic rearrangement involving one copy of the CYP19A1 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aromatase excess syndrome ? ### Response: These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile primary lateral sclerosis ? ### Response: Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) juvenile primary lateral sclerosis ? ### Response: Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to juvenile primary lateral sclerosis ? ### Response: Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. " "Below is an instruction from Human. Write a response. ### Instruction: Is juvenile primary lateral sclerosis inherited ? ### Response: When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for juvenile primary lateral sclerosis ? ### Response: These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis These resources from MedlinePlus offer informati " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myasthenia gravis ? ### Response: Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myasthenia gravis ? ### Response: Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myasthenia gravis ? ### Response: Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder. Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: Is myasthenia gravis inherited ? ### Response: In most cases, myasthenia gravis is not inherited and occurs in people with no history of the disorder in their family. About 3 to 5 percent of affected individuals have other family members with myasthenia gravis or other autoimmune disorders, but the inheritance pattern is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myasthenia gravis ? ### Response: These resources address the diagnosis or management of myasthenia gravis: - Cleveland Clinic - Genetic Testing Registry: Myasthenia gravis - Genetic Testing Registry: Myasthenia gravis with thymus hyperplasia - MedlinePlus Encyclopedia: Acetylcholine Re " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial isolated pituitary adenoma ? ### Response: Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by familial isolated pituitary adenoma ? ### Response: Pituitary adenomas, including sporadic tumors, are relatively common; they are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More than 200 families with FIPA have been described in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial isolated pituitary adenoma ? ### Response: FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial isolated pituitary adenoma inherited ? ### Response: FIPA is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, only 20 to 30 percent of individuals with an AIP gene mutation develop a pituitary adenoma. This phenomenon, in which some individuals with a mutation do not develop the features of a particular disorder, is called incomplete penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial isolated pituitary adenoma ? ### Response: These resources address the diagnosis or management of familial isolated pituitary adenoma: - American Cancer Society: How are Pituitary Tumors Diagnosed? - Gene Review: Gene Review: AIP-Related Familial Isolated Pituitary Adenomas - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dopamine beta-hydroxylase deficiency ? ### Response: Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dopamine beta-hydroxylase deficiency ? ### Response: Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dopamine beta-hydroxylase deficiency ? ### Response: Mutations in the DBH gene cause dopamine -hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine -hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is dopamine beta-hydroxylase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dopamine beta-hydroxylase deficiency ? ### Response: These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunct " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) holocarboxylase synthetase deficiency ? ### Response: Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) holocarboxylase synthetase deficiency ? ### Response: Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to holocarboxylase synthetase deficiency ? ### Response: Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. " "Below is an instruction from Human. Write a response. ### Instruction: Is holocarboxylase synthetase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for holocarboxylase synthetase deficiency ? ### Response: These resources address the diagnosis or management of holocarboxylase synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Holocarboxylase synthetase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple familial trichoepithelioma ? ### Response: Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple familial trichoepithelioma ? ### Response: Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple familial trichoepithelioma ? ### Response: Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple familial trichoepithelioma inherited ? ### Response: Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple familial trichoepithelioma ? ### Response: These resources address the diagnosis or management of multiple familial trichoepithelioma: - Genetic Testing Registry: Familial multiple trichoepitheliomata - Genetic Testing Registry: Trichoepithelioma multiple familial 2 These resources from MedlineP " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myoclonic epilepsy myopathy sensory ataxia ? ### Response: Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myoclonic epilepsy myopathy sensory ataxia ? ### Response: Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myoclonic epilepsy myopathy sensory ataxia ? ### Response: MEMSA is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. " "Below is an instruction from Human. Write a response. ### Instruction: Is myoclonic epilepsy myopathy sensory ataxia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myoclonic epilepsy myopathy sensory ataxia ? ### Response: These resources address the diagnosis or management of MEMSA: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Myoclonic epilepsy myopathy sensory ataxia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salih myopathy ? ### Response: Salih myopathy is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salih myopathy ? ### Response: Salih myopathy is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Salih myopathy ? ### Response: Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function. Within muscle cells, titin is an essential component of structures called sarcomeres. " "Below is an instruction from Human. Write a response. ### Instruction: Is Salih myopathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Salih myopathy ? ### Response: These resources address the diagnosis or management of Salih myopathy: - Gene Review: Gene Review: Salih Myopathy - Genetic Testing Registry: Myopathy, early-onset, with fatal cardiomyopathy These resources from MedlinePlus offer information about the d " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) keratoderma with woolly hair ? ### Response: Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by keratoderma with woolly hair ? ### Response: Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to keratoderma with woolly hair ? ### Response: Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin and heart muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is keratoderma with woolly hair inherited ? ### Response: Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for keratoderma with woolly hair ? ### Response: These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Regis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive osseous heteroplasia ? ### Response: Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive osseous heteroplasia ? ### Response: Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to progressive osseous heteroplasia ? ### Response: Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. " "Below is an instruction from Human. Write a response. ### Instruction: Is progressive osseous heteroplasia inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or ""turned on,"" in all cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for progressive osseous heteroplasia ? ### Response: These resources address the diagnosis or management of progressive osseous heteroplasia: - Genetic Testing Registry: Progressive osseous heteroplasia These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller-Dieker syndrome ? ### Response: Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller-Dieker syndrome ? ### Response: Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Miller-Dieker syndrome ? ### Response: Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is Miller-Dieker syndrome inherited ? ### Response: Most cases of Miller-Dieker syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Miller-Dieker syndrome ? ### Response: These resources address the diagnosis or management of Miller-Dieker syndrome: - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Genetic Testing Registry: Miller Dieker syndrome These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital insensitivity to pain with anhidrosis ? ### Response: Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital insensitivity to pain with anhidrosis ? ### Response: Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital insensitivity to pain with anhidrosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital insensitivity to pain with anhidrosis ? ### Response: These resources address the diagnosis or management of CIPA: - Gene Review: Gene Review: Congenital Insensitivity to Pain with Anhidrosis - Genetic Testing Registry: Hereditary insensitivity to pain with anhidrosis These resources from MedlinePlus offer " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypochondrogenesis ? ### Response: Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypochondrogenesis ? ### Response: Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypochondrogenesis ? ### Response: Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypochondrogenesis inherited ? ### Response: Hypochondrogenesis is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is caused by new mutations in the COL2A1 gene and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypochondrogenesis ? ### Response: These resources address the diagnosis or management of hypochondrogenesis: - Genetic Testing Registry: Hypochondrogenesis - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Krabbe disease ? ### Response: Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Krabbe disease ? ### Response: Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Krabbe disease ? ### Response: Mutations in the GALC gene cause Krabbe disease. These mutations cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is Krabbe disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Krabbe disease ? ### Response: These resources address the diagnosis or management of Krabbe disease: - Baby's First Test - Gene Review: Gene Review: Krabbe Disease - Genetic Testing Registry: Galactosylceramide beta-galactosidase deficiency - MedlinePlus Encyclopedia: Krabbe disease " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) septo-optic dysplasia ? ### Response: Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) septo-optic dysplasia ? ### Response: Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to septo-optic dysplasia ? ### Response: In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. " "Below is an instruction from Human. Write a response. ### Instruction: Is septo-optic dysplasia inherited ? ### Response: Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family. Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies of an associated gene in each cell have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for septo-optic dysplasia ? ### Response: These resources address the diagnosis or management of septo-optic dysplasia: - Genetic Testing Registry: Septo-optic dysplasia sequence - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Hypopituitarism These resources f " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondylothoracic dysostosis ? ### Response: Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or ""crab"" appearance in x-rays. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondylothoracic dysostosis ? ### Response: The MESP2 gene provides instructions for a protein that plays a critical role in the development of vertebrae. Specifically, it is involved in separating vertebrae from one another during early development, a process called somite segmentation. Mutations in the MESP2 gene prevent the production of any protein or lead to the production of an abnormally short, nonfunctional protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is spondylothoracic dysostosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spondylothoracic dysostosis ? ### Response: These resources address the diagnosis or management of spondylothoracic dysostosis: - Cleveland Clinic: Spine X-ray - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive These resources from MedlinePlus offer information about the d " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial osteochondritis dissecans ? ### Response: Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial osteochondritis dissecans ? ### Response: Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial osteochondritis dissecans ? ### Response: Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial osteochondritis dissecans ? ### Response: These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sensorineural deafness and male infertility ? ### Response: Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sensorineural deafness and male infertility ? ### Response: Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sensorineural deafness and male infertility ? ### Response: Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is sensorineural deafness and male infertility inherited ? ### Response: Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sensorineural deafness and male infertility ? ### Response: These resources address the diagnosis or management of sensorineural deafness and male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: Deafness, sensorineural, and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Unverricht-Lundborg disease ? ### Response: Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Unverricht-Lundborg disease ? ### Response: Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Unverricht-Lundborg disease ? ### Response: Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materials). " "Below is an instruction from Human. Write a response. ### Instruction: Is Unverricht-Lundborg disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Unverricht-Lundborg disease ? ### Response: These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bietti crystalline dystrophy ? ### Response: Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Bietti crystalline dystrophy ? ### Response: Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 people. It is more common in people of East Asian descent, especially those of Chinese and Japanese background. Researchers suggest that Bietti crystalline dystrophy may be underdiagnosed because its symptoms are similar to those of other eye disorders that progressively damage the retina. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bietti crystalline dystrophy ? ### Response: Bietti crystalline dystrophy is caused by mutations in the CYP4V2 gene. This gene provides instructions for making a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules and chemicals within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bietti crystalline dystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bietti crystalline dystrophy ? ### Response: These resources address the diagnosis or management of Bietti crystalline dystrophy: - Gene Review: Gene Review: Bietti Crystalline Dystrophy - Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy These resources from MedlinePlus offer i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pallister-Killian mosaic syndrome ? ### Response: Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Pallister-Killian mosaic syndrome ? ### Response: Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pallister-Killian mosaic syndrome ? ### Response: Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pallister-Killian mosaic syndrome inherited ? ### Response: Pallister-Killian mosaic syndrome is not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pallister-Killian mosaic syndrome ? ### Response: These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) central core disease ? ### Response: Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) central core disease ? ### Response: Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to central core disease ? ### Response: Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: Is central core disease inherited ? ### Response: Central core disease is most often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for central core disease ? ### Response: These resources address the diagnosis or management of central core disease: - Gene Review: Gene Review: Central Core Disease - Genetic Testing Registry: Central core disease - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Malignant Hy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? ### Response: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? ### Response: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? ### Response: NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of dermatoglyphs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? ### Response: These resources address the diagnosis or management of NFJS/DPR: - Foundation for Ichthyosis and Related Skin Types (FIRST): Palmoplantar Keratodermas - Genetic Testing Registry: Dermatopathia pigmentosa reticularis - Genetic Testing Registry: Naegeli-Fr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fanconi anemia ? ### Response: Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fanconi anemia ? ### Response: Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Fanconi anemia ? ### Response: Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fanconi anemia inherited ? ### Response: Fanconi anemia is most often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fanconi anemia ? ### Response: These resources address the diagnosis or management of Fanconi anemia: - Cincinnati Children's Hospital: Fanconi Anemia Comprehensive Care Center - Fanconi Anemia Research Fund: Fanconi Anemia Guidelines for Diagnosis and Management - Gene Review: Gene R " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 18q deletion syndrome ? ### Response: 18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals. Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to severe, but some affected individuals have normal intelligence and development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 18q deletion syndrome ? ### Response: 18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals. Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to severe, but some affected individuals have normal intelligence and development. " "Below is an instruction from Human. Write a response. ### Instruction: Is 18q deletion syndrome inherited ? ### Response: Most cases of 18q deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 18q deletion syndrome ? ### Response: These resources address the diagnosis or management of 18q deletion syndrome: - Gene Review: Gene Review: Leukodystrophy Overview - University of Texas Chromosome 18 Clinical Research Center These resources from MedlinePlus offer information about the d " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked adrenoleukodystrophy ? ### Response: X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked adrenoleukodystrophy ? ### Response: X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked adrenoleukodystrophy ? ### Response: Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked adrenoleukodystrophy inherited ? ### Response: X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is sufficient to cause X-linked adrenoleukodystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked adrenoleukodystrophy ? ### Response: These resources address the diagnosis or management of X-linked adrenoleukodystrophy: - Gene Review: Gene Review: X-Linked Adrenoleukodystrophy - Genetic Testing Registry: Adrenoleukodystrophy - Genomics Education Programme (UK) - MedlinePlus Encycloped " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial restrictive cardiomyopathy ? ### Response: Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by familial restrictive cardiomyopathy ? ### Response: The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired contraction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial restrictive cardiomyopathy ? ### Response: Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial restrictive cardiomyopathy ? ### Response: Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial restrictive cardiomyopathy ? ### Response: These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Fami " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nail-patella syndrome ? ### Response: Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nail-patella syndrome ? ### Response: Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nail-patella syndrome ? ### Response: Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: Is nail-patella syndrome inherited ? ### Response: Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nail-patella syndrome ? ### Response: These resources address the diagnosis or management of nail-patella syndrome: - Gene Review: Gene Review: Nail-Patella Syndrome - Genetic Testing Registry: Nail-patella syndrome These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fraser syndrome ? ### Response: Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fraser syndrome ? ### Response: Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). " "Below is an instruction from Human. Write a response. ### Instruction: Is Fraser syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fraser syndrome ? ### Response: These resources address the diagnosis or management of Fraser syndrome: - Genetic Testing Registry: Cryptophthalmos syndrome - University of Arizona College of Medicine: Cryptophthalmos These resources from MedlinePlus offer information about the diagno " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ? ### Response: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ? ### Response: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Mayer-Rokitansky-Kster-Hauser syndrome ? ### Response: The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome. The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ? ### Response: Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mayer-Rokitansky-Kster-Hauser syndrome ? ### Response: These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome: - American Urological Association Foundation: Vaginal Agenesis - Children's Hospital Boston: Center for Young Women's Health - Genetic Testing Registry: Rokita " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Axenfeld-Rieger syndrome ? ### Response: Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Axenfeld-Rieger syndrome ? ### Response: Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Axenfeld-Rieger syndrome ? ### Response: Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Axenfeld-Rieger syndrome ? ### Response: Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Axenfeld-Rieger syndrome ? ### Response: These resources address the diagnosis or management of Axenfeld-Rieger syndrome: - Genetic Testing Registry: Axenfeld-Rieger syndrome type 1 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 - Genetic Testing Registry: Axenfeld-Rieger syndrome " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondylocarpotarsal synostosis syndrome ? ### Response: Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spondylocarpotarsal synostosis syndrome ? ### Response: Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spondylocarpotarsal synostosis syndrome ? ### Response: Mutations in the FLNB gene cause spondylocarpotarsal synostosis syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. " "Below is an instruction from Human. Write a response. ### Instruction: Is spondylocarpotarsal synostosis syndrome inherited ? ### Response: Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spondylocarpotarsal synostosis syndrome ? ### Response: These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis syndrome These resources from MedlinePlus offer " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic paraganglioma ? ### Response: Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic paraganglioma ? ### Response: Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nonsyndromic paraganglioma ? ### Response: The VHL, RET, SDHB, and SDHD genes can be mutated in both syndromic and nonsyndromic forms of paraganglioma and pheochromocytoma. Mutations in at least three additional genes, TMEM127, SDHA, and KIF1B, have been identified in people with the nonsyndromic form of these conditions. " "Below is an instruction from Human. Write a response. ### Instruction: Is nonsyndromic paraganglioma inherited ? ### Response: Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itself. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nonsyndromic paraganglioma ? ### Response: These resources address the diagnosis or management of nonsyndromic paraganglioma: - Genetic Testing Registry: Pheochromocytoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypomagnesemia with secondary hypocalcemia ? ### Response: Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypomagnesemia with secondary hypocalcemia ? ### Response: Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypomagnesemia with secondary hypocalcemia ? ### Response: Hypomagnesemia with secondary hypocalcemia is caused by mutations in the TRPM6 gene. This gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass into cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypomagnesemia with secondary hypocalcemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypomagnesemia with secondary hypocalcemia ? ### Response: These resources address the diagnosis or management of hypomagnesemia with secondary hypocalcemia: - Genetic Testing Registry: Hypomagnesemia 1, intestinal - MedlinePlus Encyclopedia: Hypomagnesemia These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tetrasomy 18p ? ### Response: Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tetrasomy 18p ? ### Response: Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tetrasomy 18p ? ### Response: Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. " "Below is an instruction from Human. Write a response. ### Instruction: Is tetrasomy 18p inherited ? ### Response: Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tetrasomy 18p ? ### Response: These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p These resources from Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 3 ? ### Response: Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 3 ? ### Response: Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinocerebellar ataxia type 3 ? ### Response: Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinocerebellar ataxia type 3 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinocerebellar ataxia type 3 ? ### Response: These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of v " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) inherited thyroxine-binding globulin deficiency ? ### Response: Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by inherited thyroxine-binding globulin deficiency ? ### Response: The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to inherited thyroxine-binding globulin deficiency ? ### Response: Inherited thyroxine-binding globulin deficiency results from mutations in the SERPINA7 gene. This gene provides instructions for making thyroxine-binding globulin. Some mutations in the SERPINA7 gene prevent the production of a functional protein, causing TBG-CD. " "Below is an instruction from Human. Write a response. ### Instruction: Is inherited thyroxine-binding globulin deficiency inherited ? ### Response: Inherited thyroxine-binding globulin deficiency has an X-linked pattern of inheritance. The SERPINA7 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes partial or complete inherited thyroxine-binding globulin deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for inherited thyroxine-binding globulin deficiency ? ### Response: These resources address the diagnosis or management of inherited thyroxine-binding globulin deficiency: - American Thyroid Association: Thyroid Function Tests - MedlinePlus Encyclopedia: Serum TBG Level These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lysinuric protein intolerance ? ### Response: Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lysinuric protein intolerance ? ### Response: Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lysinuric protein intolerance ? ### Response: Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is lysinuric protein intolerance inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lysinuric protein intolerance ? ### Response: These resources address the diagnosis or management of lysinuric protein intolerance: - Gene Review: Gene Review: Lysinuric Protein Intolerance - Genetic Testing Registry: Lysinuric protein intolerance - MedlinePlus Encyclopedia: Aminoaciduria - Medline " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marfan syndrome ? ### Response: Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marfan syndrome ? ### Response: Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Marfan syndrome ? ### Response: Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is Marfan syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Marfan syndrome ? ### Response: These resources address the diagnosis or management of Marfan syndrome: - Gene Review: Gene Review: Marfan Syndrome - Genetic Testing Registry: Marfan syndrome - MarfanDX - MedlinePlus Encyclopedia: Aortic Dissection - MedlinePlus Encyclopedia: Marfan " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) idiopathic pulmonary fibrosis ? ### Response: Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by idiopathic pulmonary fibrosis ? ### Response: Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per 100,000 people worldwide. About 100,000 people are affected in the United States, and 30,000 to 40,000 new cases are diagnosed each year. Familial pulmonary fibrosis is less common than the sporadic form of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to idiopathic pulmonary fibrosis ? ### Response: The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is idiopathic pulmonary fibrosis inherited ? ### Response: Most cases of idiopathic pulmonary fibrosis are sporadic; they occur in people with no history of the disorder in their family. Familial pulmonary fibrosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for idiopathic pulmonary fibrosis ? ### Response: These resources address the diagnosis or management of idiopathic pulmonary fibrosis: - Gene Review: Gene Review: Pulmonary Fibrosis, Familial - Genetic Testing Registry: Idiopathic fibrosing alveolitis, chronic form These resources from MedlinePlus off " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blau syndrome ? ### Response: Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blau syndrome ? ### Response: Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Blau syndrome ? ### Response: Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. " "Below is an instruction from Human. Write a response. ### Instruction: Is Blau syndrome inherited ? ### Response: Blau syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals have one parent with the condition. In some cases, people with the characteristic features of Blau syndrome do not have a family history of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Blau syndrome ? ### Response: These resources address the diagnosis or management of Blau syndrome: - Genetic Testing Registry: Blau syndrome - Genetic Testing Registry: Sarcoidosis, early-onset - Merck Manual Consumer Version: Overview of Dermatitis - Merck Manual Consumer Version: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) McKusick-Kaufman syndrome ? ### Response: McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) McKusick-Kaufman syndrome ? ### Response: McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to McKusick-Kaufman syndrome ? ### Response: Mutations in the MKKS gene cause McKusick-Kaufman syndrome. This gene provides instructions for making a protein that plays an important role in the formation of the limbs, heart, and reproductive system. The protein's structure suggests that it may act as a chaperonin, which is a type of protein that helps fold other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is McKusick-Kaufman syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for McKusick-Kaufman syndrome ? ### Response: These resources address the diagnosis or management of McKusick-Kaufman syndrome: - Gene Review: Gene Review: McKusick-Kaufman Syndrome - Genetic Testing Registry: McKusick Kaufman syndrome - MedlinePlus Encyclopedia: Polydactyly These resources from M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Caffey disease ? ### Response: Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Caffey disease ? ### Response: Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Caffey disease ? ### Response: A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin. " "Below is an instruction from Human. Write a response. ### Instruction: Is Caffey disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Caffey disease ? ### Response: These resources address the diagnosis or management of Caffey disease: - Cedars-Sinai: Skeletal Dysplasia - Gene Review: Gene Review: Caffey Disease - Genetic Testing Registry: Infantile cortical hyperostosis These resources from MedlinePlus offer info " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) argininosuccinic aciduria ? ### Response: Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) argininosuccinic aciduria ? ### Response: Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to argininosuccinic aciduria ? ### Response: Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is argininosuccinic aciduria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for argininosuccinic aciduria ? ### Response: These resources address the diagnosis or management of argininosuccinic aciduria: - Baby's First Test - Gene Review: Gene Review: Argininosuccinate Lyase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Ar " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial dysautonomia ? ### Response: Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial dysautonomia ? ### Response: Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial dysautonomia ? ### Response: Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial dysautonomia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial dysautonomia ? ### Response: These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day Syndrome These resources from Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dandy-Walker malformation ? ### Response: Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dandy-Walker malformation ? ### Response: Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Dandy-Walker malformation ? ### Response: Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). " "Below is an instruction from Human. Write a response. ### Instruction: Is Dandy-Walker malformation inherited ? ### Response: Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dandy-Walker malformation ? ### Response: These resources address the diagnosis or management of Dandy-Walker malformation: - Genetic Testing Registry: Dandy-Walker syndrome - National Hydrocephalus Foundation: Treatment of Hydrocephalus These resources from MedlinePlus offer information about " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Danon disease ? ### Response: Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Danon disease ? ### Response: Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Danon disease ? ### Response: Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Danon disease inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Danon disease ? ### Response: These resources address the diagnosis or management of Danon disease: - American Heart Association: Dilated Cardiomyopathy - Genetic Testing Registry: Danon disease - KidsHealth from Nemours: Getting an EKG - Swedish Information Centre for Rare Diseases " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) craniometaphyseal dysplasia ? ### Response: Craniometaphyseal dysplasia is a rare condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) craniometaphyseal dysplasia ? ### Response: Craniometaphyseal dysplasia is a rare condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to craniometaphyseal dysplasia ? ### Response: Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. " "Below is an instruction from Human. Write a response. ### Instruction: Is craniometaphyseal dysplasia inherited ? ### Response: Craniometaphyseal dysplasia can have different inheritance patterns. In most cases this condition is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for craniometaphyseal dysplasia ? ### Response: These resources address the diagnosis or management of craniometaphyseal dysplasia: - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant - Genetic Testing " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Waldenstrm macroglobulinemia ? ### Response: Waldenstrm macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Waldenstrm macroglobulinemia ? ### Response: Waldenstrm macroglobulinemia affects an estimated 3 per million people each year in the United States. Approximately 1,500 new cases of the condition are diagnosed each year in this country, and whites are more commonly affected than African Americans. For unknown reasons, the condition occurs twice as often in men than women. " "Below is an instruction from Human. Write a response. ### Instruction: Is Waldenstrm macroglobulinemia inherited ? ### Response: Waldenstrm macroglobulinemia is usually not inherited, and most affected people have no history of the disorder in their family. The condition usually arises from mutations that are acquired during a person's lifetime (somatic mutations), which are not inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Waldenstrm macroglobulinemia ? ### Response: These resources address the diagnosis or management of Waldenstrm macroglobulinemia: - American Cancer Society: How is Waldenstrom Macroglobulinemia Diagnosed? - American Cancer Society: How is Waldenstrom Macroglobulinemia Treated? - Genetic Testing Reg " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ghosal hematodiaphyseal dysplasia ? ### Response: Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ghosal hematodiaphyseal dysplasia ? ### Response: Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ghosal hematodiaphyseal dysplasia ? ### Response: Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). " "Below is an instruction from Human. Write a response. ### Instruction: Is Ghosal hematodiaphyseal dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ghosal hematodiaphyseal dysplasia ? ### Response: These resources address the diagnosis or management of Ghosal hematodiaphyseal dysplasia: - Genetic Testing Registry: Ghosal syndrome - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How i " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 15q13.3 microdeletion ? ### Response: 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 15q13.3 microdeletion ? ### Response: 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 15q13.3 microdeletion ? ### Response: Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA building blocks (base pairs), also written as 2 megabases (Mb), at position q13.3 on chromosome 15. The exact size of the deleted region varies, but it typically contains at least six genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is 15q13.3 microdeletion inherited ? ### Response: 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features. In about 75 percent of cases, individuals with 15q13. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 15q13.3 microdeletion ? ### Response: These resources address the diagnosis or management of 15q13.3 microdeletion: - Gene Review: Gene Review: 15q13.3 Microdeletion - Genetic Testing Registry: 15q13.3 microdeletion syndrome These resources from MedlinePlus offer information about the diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoribosylpyrophosphate synthetase superactivity ? ### Response: Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) phosphoribosylpyrophosphate synthetase superactivity ? ### Response: Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to phosphoribosylpyrophosphate synthetase superactivity ? ### Response: Certain mutations in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). " "Below is an instruction from Human. Write a response. ### Instruction: Is phosphoribosylpyrophosphate synthetase superactivity inherited ? ### Response: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for phosphoribosylpyrophosphate synthetase superactivity ? ### Response: These resources address the diagnosis or management of PRS superactivity: - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity - MedlinePlus Ency " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neutral lipid storage disease with myopathy ? ### Response: Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes mellitus (the most common form of diabetes). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neutral lipid storage disease with myopathy ? ### Response: Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is neutral lipid storage disease with myopathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neutral lipid storage disease with myopathy ? ### Response: These resources address the diagnosis or management of neutral lipid storage disease with myopathy: - Genetic Testing Registry: Neutral lipid storage disease with myopathy - MedlinePlus Encyclopedia: Hypothyroidism - MedlinePlus Encyclopedia: Type 2 Diab " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cytochrome P450 oxidoreductase deficiency ? ### Response: Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by cytochrome P450 oxidoreductase deficiency ? ### Response: The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide. Researchers suspect that cytochrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this disorder may be relatively common. " "Below is an instruction from Human. Write a response. ### Instruction: Is cytochrome P450 oxidoreductase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cytochrome P450 oxidoreductase deficiency ? ### Response: These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency: - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordere " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langer mesomelic dysplasia ? ### Response: Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langer mesomelic dysplasia ? ### Response: Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Langer mesomelic dysplasia ? ### Response: Langer mesomelic dysplasia results from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Langer mesomelic dysplasia is a deletion of the entire SHOX gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Langer mesomelic dysplasia inherited ? ### Response: Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Langer mesomelic dysplasia ? ### Response: These resources address the diagnosis or management of Langer mesomelic dysplasia: - Genetic Testing Registry: Langer mesomelic dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health con " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ochoa syndrome ? ### Response: Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions. The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ochoa syndrome ? ### Response: Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions. The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ochoa syndrome ? ### Response: Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood. Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ochoa syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ochoa syndrome ? ### Response: These resources address the diagnosis or management of Ochoa syndrome: - Gene Review: Gene Review: Urofacial Syndrome - Genetic Testing Registry: Ochoa syndrome - National Institute of Diabetes and Digestive and Kidney Diseases: Urodynamic Testing - Scr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 5-alpha reductase deficiency ? ### Response: 5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 5-alpha reductase deficiency ? ### Response: 5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 5-alpha reductase deficiency ? ### Response: Mutations in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: Is 5-alpha reductase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 5-alpha reductase deficiency ? ### Response: These resources address the diagnosis or management of 5-alpha reductase deficiency: - Genetic Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pendred syndrome ? ### Response: Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pendred syndrome ? ### Response: Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pendred syndrome ? ### Response: Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pendred syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pendred syndrome ? ### Response: These resources address the diagnosis or management of Pendred syndrome: - Children's Hospital of Philadelphia, Center for Childhood Communication - Gene Review: Gene Review: Pendred Syndrome/DFNB4 - Genetic Testing Registry: Pendred's syndrome - Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neurofibromatosis type 2 ? ### Response: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neurofibromatosis type 2 ? ### Response: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neurofibromatosis type 2 ? ### Response: Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: Is neurofibromatosis type 2 inherited ? ### Response: Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neurofibromatosis type 2 ? ### Response: These resources address the diagnosis or management of neurofibromatosis type 2: - Boston Children's Hospital - Gene Review: Gene Review: Neurofibromatosis 2 - Genetic Testing Registry: Neurofibromatosis, type 2 - MedlinePlus Encyclopedia: Acoustic Neur " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial neurogastrointestinal encephalopathy disease ? ### Response: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial neurogastrointestinal encephalopathy disease ? ### Response: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mitochondrial neurogastrointestinal encephalopathy disease ? ### Response: Mutations in the TYMP gene (previously known as ECGF1) cause MNGIE disease. This gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside, which (after a chemical modification) is used as a building block of DNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is mitochondrial neurogastrointestinal encephalopathy disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the TYMP gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mitochondrial neurogastrointestinal encephalopathy disease ? ### Response: These resources address the diagnosis or management of MNGIE disease: - Gene Review: Gene Review: Mitochondrial Neurogastrointestinal Encephalopathy Disease - Genetic Testing Registry: Myoneural gastrointestinal encephalopathy syndrome - MedlinePlus Ency " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) corticosteroid-binding globulin deficiency ? ### Response: Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by corticosteroid-binding globulin deficiency ? ### Response: The prevalence of corticosteroid-binding globulin deficiency is unknown, but it is thought to be a rare disorder. However, because some people with the disorder have mild or no symptoms, it is likely that corticosteroid-binding globulin deficiency is underdiagnosed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to corticosteroid-binding globulin deficiency ? ### Response: Mutations in the SERPINA6 gene cause corticosteroid-binding globulin deficiency. The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol. " "Below is an instruction from Human. Write a response. ### Instruction: Is corticosteroid-binding globulin deficiency inherited ? ### Response: This condition is reported to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for corticosteroid-binding globulin deficiency ? ### Response: These resources address the diagnosis or management of corticosteroid-binding globulin deficiency: - American Heart Association: Understanding Blood Pressure Readings - Genetic Testing Registry: Corticosteroid-binding globulin deficiency These resources " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) iron-refractory iron deficiency anemia ? ### Response: Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by iron-refractory iron deficiency anemia ? ### Response: Although iron deficiency anemia is relatively common, the prevalence of the iron-refractory form of the disease is unknown. At least 50 cases have been described in the medical literature. Researchers suspect that iron-refractory iron deficiency anemia is underdiagnosed because affected individuals with very mild symptoms may never come to medical attention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to iron-refractory iron deficiency anemia ? ### Response: Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage of iron in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is iron-refractory iron deficiency anemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for iron-refractory iron deficiency anemia ? ### Response: These resources address the diagnosis or management of iron-refractory iron deficiency anemia: - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thiopurine S-methyltransferase deficiency ? ### Response: Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) thiopurine S-methyltransferase deficiency ? ### Response: Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to thiopurine S-methyltransferase deficiency ? ### Response: TPMT deficiency results from changes in the TPMT gene. This gene provides instructions for making the TPMT enzyme, which plays a critical role in breaking down (metabolizing) thiopurine drugs. Once inside the body, these drugs are converted to toxic compounds that kill immune system cells in the bone marrow. " "Below is an instruction from Human. Write a response. ### Instruction: Is thiopurine S-methyltransferase deficiency inherited ? ### Response: The activity of the TPMT enzyme is inherited in a pattern described as autosomal codominant. Codominance means that two different versions of the gene are active (expressed), and both versions influence the genetic trait. The TPMT gene can be classified as either low-activity or high-activity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for thiopurine S-methyltransferase deficiency ? ### Response: These resources address the diagnosis or management of thiopurine S-methyltransferase deficiency: - MedlinePlus Drug: Azathioprine - MedlinePlus Drug: Mercaptopurine - MedlinePlus Drug: Thioguanine These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive external ophthalmoplegia ? ### Response: Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) progressive external ophthalmoplegia ? ### Response: Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to progressive external ophthalmoplegia ? ### Response: Progressive external ophthalmoplegia is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA or mtDNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is progressive external ophthalmoplegia inherited ? ### Response: Progressive external ophthalmoplegia can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in the MT-TL1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for progressive external ophthalmoplegia ? ### Response: These resources address the diagnosis or management of progressive external ophthalmoplegia: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Autosomal dominan " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alveolar capillary dysplasia with misalignment of pulmonary veins ? ### Response: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) alveolar capillary dysplasia with misalignment of pulmonary veins ? ### Response: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to alveolar capillary dysplasia with misalignment of pulmonary veins ? ### Response: ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: Is alveolar capillary dysplasia with misalignment of pulmonary veins inherited ? ### Response: ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for alveolar capillary dysplasia with misalignment of pulmonary veins ? ### Response: These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) diastrophic dysplasia ? ### Response: Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) diastrophic dysplasia ? ### Response: Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to diastrophic dysplasia ? ### Response: Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. " "Below is an instruction from Human. Write a response. ### Instruction: Is diastrophic dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for diastrophic dysplasia ? ### Response: These resources address the diagnosis or management of diastrophic dysplasia: - Gene Review: Gene Review: Diastrophic Dysplasia - Genetic Testing Registry: Diastrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary carnitine deficiency ? ### Response: Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) primary carnitine deficiency ? ### Response: Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to primary carnitine deficiency ? ### Response: Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is primary carnitine deficiency inherited ? ### Response: Primary carnitine deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder are carriers, which means they each carry one copy of the mutated gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for primary carnitine deficiency ? ### Response: These resources address the diagnosis or management of primary carnitine deficiency: - Baby's First Test - Gene Review: Gene Review: Systemic Primary Carnitine Deficiency - Genetic Testing Registry: Renal carnitine transport defect - The Linus Pauling I " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple sulfatase deficiency ? ### Response: Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multiple sulfatase deficiency ? ### Response: Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multiple sulfatase deficiency ? ### Response: Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. " "Below is an instruction from Human. Write a response. ### Instruction: Is multiple sulfatase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multiple sulfatase deficiency ? ### Response: These resources address the diagnosis or management of multiple sulfatase deficiency: - Genetic Testing Registry: Multiple sulfatase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health condit " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) inclusion body myopathy 2 ? ### Response: Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time. The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower leg called the tibialis anterior. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by inclusion body myopathy 2 ? ### Response: More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to inclusion body myopathy 2 ? ### Response: Mutations in the GNE gene cause inclusion body myopathy 2. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is inclusion body myopathy 2 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for inclusion body myopathy 2 ? ### Response: These resources address the diagnosis or management of inclusion body myopathy 2: - Gene Review: Gene Review: GNE-Related Myopathy - Genetic Testing Registry: Inclusion body myopathy 2 - Genetic Testing Registry: Nonaka myopathy These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lactate dehydrogenase deficiency ? ### Response: Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lactate dehydrogenase deficiency ? ### Response: Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lactate dehydrogenase deficiency ? ### Response: Mutations in the LDHA gene cause lactate dehydrogenase-A deficiency, and mutations in the LDHB gene cause lactate dehydrogenase-B deficiency. These genes provide instructions for making the lactate dehydrogenase-A and lactate dehydrogenase-B pieces (subunits) of the lactate dehydrogenase enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: Is lactate dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lactate dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of lactate dehydrogenase deficiency: - Genetic Testing Registry: Glycogen storage disease XI - Genetic Testing Registry: Lactate dehydrogenase B deficiency - MedlinePlus Encyclopedia: LDH Isoenzymes - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kallmann syndrome ? ### Response: Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism (HH), which is a condition affecting the production of hormones that direct sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kallmann syndrome ? ### Response: Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism (HH), which is a condition affecting the production of hormones that direct sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Kallmann syndrome ? ### Response: Mutations in the ANOS1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. ANOS1 gene mutations are responsible for Kallmann syndrome 1. Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in the PROKR2 and PROK2 genes cause Kallmann syndrome types 3 and 4, respectively. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kallmann syndrome inherited ? ### Response: Kallmann syndrome 1 (caused by ANOS1 gene mutations) has an X-linked recessive pattern of inheritance. The ANOS1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kallmann syndrome ? ### Response: These resources address the diagnosis or management of Kallmann syndrome: - Gene Review: Gene Review: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - Genetic Testing Registry: Hypogonadism with anosmia - Genetic Testing Registry: Kallmann syn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bardet-Biedl syndrome ? ### Response: Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Bardet-Biedl syndrome ? ### Response: In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Bardet-Biedl syndrome ? ### Response: Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bardet-Biedl syndrome inherited ? ### Response: Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bardet-Biedl syndrome ? ### Response: These resources address the diagnosis or management of Bardet-Biedl syndrome: - Gene Review: Gene Review: Bardet-Biedl Syndrome - Genetic Testing Registry: Bardet-Biedl syndrome - MedlinePlus Encyclopedia: Obesity - MedlinePlus Encyclopedia: Polydactyly " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-beta-hydroxysteroid dehydrogenase deficiency ? ### Response: 3-beta ()-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-beta-hydroxysteroid dehydrogenase deficiency ? ### Response: 3-beta ()-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3-beta-hydroxysteroid dehydrogenase deficiency ? ### Response: Mutations in the HSD3B2 gene cause 3-HSD deficiency. The HSD3B2 gene provides instructions for making the 3-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-beta-hydroxysteroid dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-beta-hydroxysteroid dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of 3-beta-hydroxysteroid dehydrogenase deficiency: - Genetic Testing Registry: 3 beta-Hydroxysteroid dehydrogenase deficiency - Great Ormond Street Hospital for Children: Cortisol Deficiency - MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) popliteal pterygium syndrome ? ### Response: Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to popliteal pterygium syndrome ? ### Response: Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to popliteal pterygium syndrome ? ### Response: Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for popliteal pterygium syndrome ? ### Response: These resources address the diagnosis or management of popliteal pterygium syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Popliteal pterygium syndrome These resources from MedlinePlus offer information about the " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) white sponge nevus ? ### Response: White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) white sponge nevus ? ### Response: White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to white sponge nevus ? ### Response: Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. " "Below is an instruction from Human. Write a response. ### Instruction: Is white sponge nevus inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. However, some people who have a mutation that causes white sponge nevus do not develop these abnormal growths; this phenomenon is called reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for white sponge nevus ? ### Response: These resources address the diagnosis or management of white sponge nevus: - Genetic Testing Registry: White sponge nevus of cannon These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Maffucci syndrome ? ### Response: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Maffucci syndrome ? ### Response: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Maffucci syndrome ? ### Response: In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. " "Below is an instruction from Human. Write a response. ### Instruction: Is Maffucci syndrome inherited ? ### Response: Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Maffucci syndrome ? ### Response: These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary antithrombin deficiency ? ### Response: Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary antithrombin deficiency ? ### Response: Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary antithrombin deficiency ? ### Response: Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary antithrombin deficiency inherited ? ### Response: Hereditary antithrombin deficiency is typically inherited in an autosomal dominant pattern, which means one altered copy of the SERPINC1 gene in each cell is sufficient to cause the disorder. Inheriting two altered copies of this gene in each cell is usually incompatible with life; however, a few severely affected individuals have been reported with mutations in both copies of the SERPINC1 gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary antithrombin deficiency ? ### Response: These resources address the diagnosis or management of hereditary antithrombin deficiency: - Genetic Testing Registry: Antithrombin III deficiency - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Congenital Antithrombin III Deficiency " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type V ? ### Response: Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type V ? ### Response: Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type V ? ### Response: Mutations in the PYGM gene cause GSDV. The PYGM gene provides instructions for making an enzyme called myophosphorylase. This enzyme is found only in muscle cells, where it breaks down glycogen into a simpler sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type V inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type V ? ### Response: These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COL4A1-related brain small-vessel disease ? ### Response: COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COL4A1-related brain small-vessel disease ? ### Response: COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to COL4A1-related brain small-vessel disease ? ### Response: As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. " "Below is an instruction from Human. Write a response. ### Instruction: Is COL4A1-related brain small-vessel disease inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Rarely, new mutations in the gene occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for COL4A1-related brain small-vessel disease ? ### Response: These resources address the diagnosis or management of COL4A1-related brain small-vessel disease: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Brain small vessel disease with hemorrhage These resources from MedlinePlu " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Canavan disease ? ### Response: Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Canavan disease ? ### Response: While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Canavan disease ? ### Response: Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Canavan disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Canavan disease ? ### Response: These resources address the diagnosis or management of Canavan disease: - Gene Review: Gene Review: Canavan Disease - Genetic Testing Registry: Canavan disease, mild - Genetic Testing Registry: Spongy degeneration of central nervous system - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brugada syndrome ? ### Response: Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Brugada syndrome ? ### Response: The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations. Although Brugada syndrome affects both men and women, the condition appears to be 8 to 10 times more common in men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Brugada syndrome ? ### Response: Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Brugada syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Brugada syndrome ? ### Response: These resources address the diagnosis or management of Brugada syndrome: - Gene Review: Gene Review: Brugada Syndrome - Genetic Testing Registry: Brugada syndrome - Genetic Testing Registry: Brugada syndrome 1 - MedlinePlus Encyclopedia: Arrhythmias T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? ### Response: The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? ### Response: The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? ### Response: The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ? ### Response: This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? ### Response: These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson syndrome These resources from MedlinePlus offer information about the diag " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked juvenile retinoschisis ? ### Response: X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked juvenile retinoschisis ? ### Response: X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked juvenile retinoschisis ? ### Response: Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked juvenile retinoschisis inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked juvenile retinoschisis ? ### Response: These resources address the diagnosis or management of X-linked juvenile retinoschisis: - Gene Review: Gene Review: X-Linked Juvenile Retinoschisis - Genetic Testing Registry: Juvenile retinoschisis These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) bradyopsia ? ### Response: Bradyopsia is a rare condition that affects vision. The term ""bradyopsia"" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) bradyopsia ? ### Response: Bradyopsia is a rare condition that affects vision. The term ""bradyopsia"" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to bradyopsia ? ### Response: Bradyopsia can be caused by mutations in the RGS9 gene or in the RGS9BP gene (which is also known as R9AP). These genes provide instructions for making proteins that are necessary for normal vision. The proteins are found in light-detecting cells in the eye called photoreceptors. " "Below is an instruction from Human. Write a response. ### Instruction: Is bradyopsia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for bradyopsia ? ### Response: These resources address the diagnosis or management of bradyopsia: - Children's Hospital of Pittsburgh: Electroretinogram - Genetic Testing Registry: Prolonged electroretinal response suppression - MedlinePlus Encyclopedia: Electroretinography - Prevent " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stargardt macular degeneration ? ### Response: Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stargardt macular degeneration ? ### Response: Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Stargardt macular degeneration ? ### Response: In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing (photoreceptor) cells in the retina. " "Below is an instruction from Human. Write a response. ### Instruction: Is Stargardt macular degeneration inherited ? ### Response: Stargardt macular degeneration can have different inheritance patterns. When mutations in the ABCA4 gene cause this condition, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stargardt macular degeneration ? ### Response: These resources address the diagnosis or management of Stargardt macular degeneration: - Genetic Testing Registry: Stargardt Disease 3 - Genetic Testing Registry: Stargardt disease 1 - Genetic Testing Registry: Stargardt disease 4 These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) essential pentosuria ? ### Response: Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) essential pentosuria ? ### Response: Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to essential pentosuria ? ### Response: Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. " "Below is an instruction from Human. Write a response. ### Instruction: Is essential pentosuria inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for essential pentosuria ? ### Response: These resources address the diagnosis or management of essential pentosuria: - Genetic Testing Registry: Essential pentosuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leptin receptor deficiency ? ### Response: Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leptin receptor deficiency ? ### Response: Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to leptin receptor deficiency ? ### Response: Leptin receptor deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. " "Below is an instruction from Human. Write a response. ### Instruction: Is leptin receptor deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for leptin receptor deficiency ? ### Response: These resources address the diagnosis or management of leptin receptor deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Leptin receptor def " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Loeys-Dietz syndrome ? ### Response: Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by their genetic cause. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Loeys-Dietz syndrome ? ### Response: Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by their genetic cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Loeys-Dietz syndrome ? ### Response: The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. " "Below is an instruction from Human. Write a response. ### Instruction: Is Loeys-Dietz syndrome inherited ? ### Response: Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Loeys-Dietz syndrome ? ### Response: These resources address the diagnosis or management of Loeys-Dietz syndrome: - Gene Review: Gene Review: Loeys-Dietz Syndrome - Genetic Testing Registry: Loeys-Dietz syndrome - Genetic Testing Registry: Loeys-Dietz syndrome 1 - Genetic Testing Registry: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nephrogenic diabetes insipidus ? ### Response: Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nephrogenic diabetes insipidus ? ### Response: Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nephrogenic diabetes insipidus ? ### Response: The hereditary form of nephrogenic diabetes insipidus can be caused by mutations in at least two genes. About 90 percent of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene. Most of the remaining 10 percent of cases are caused by mutations in the AQP2 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is nephrogenic diabetes insipidus inherited ? ### Response: When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nephrogenic diabetes insipidus ? ### Response: These resources address the diagnosis or management of nephrogenic diabetes insipidus: - Gene Review: Gene Review: Nephrogenic Diabetes Insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus - Genetic Testing Registry: Nephrogenic diabetes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? ### Response: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? ### Response: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? ### Response: LBSL is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation inherited ? ### Response: LBSL is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In this condition, each copy of the gene carries a different mutation (compound heterozygous mutations). An affected individual never has the same mutation in both copies of the gene (a homozygous mutation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? ### Response: These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord I " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Waardenburg syndrome ? ### Response: Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Waardenburg syndrome ? ### Response: Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. " "Below is an instruction from Human. Write a response. ### Instruction: Is Waardenburg syndrome inherited ? ### Response: Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Waardenburg syndrome ? ### Response: These resources address the diagnosis or management of Waardenburg syndrome: - Gene Review: Gene Review: Waardenburg Syndrome Type I - Genetic Testing Registry: Klein-Waardenberg's syndrome - Genetic Testing Registry: Waardenburg syndrome type 1 - Genet " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutaric acidemia type I ? ### Response: Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutaric acidemia type I ? ### Response: Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glutaric acidemia type I ? ### Response: Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. " "Below is an instruction from Human. Write a response. ### Instruction: Is glutaric acidemia type I inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glutaric acidemia type I ? ### Response: These resources address the diagnosis or management of glutaric acidemia type I: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various h " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pseudohypoaldosteronism type 2 ? ### Response: Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. " "Below is an instruction from Human. Write a response. ### Instruction: Is pseudohypoaldosteronism type 2 inherited ? ### Response: This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pseudohypoaldosteronism type 2 ? ### Response: These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer informa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) nonsyndromic hearing loss ? ### Response: Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by nonsyndromic hearing loss ? ### Response: Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to nonsyndromic hearing loss ? ### Response: The causes of nonsyndromic hearing loss are complex. Researchers have identified more than 90 genes that, when altered, are associated with nonsyndromic hearing loss. Many of these genes are involved in the development and function of the inner ear. Mutations in these genes contribute to hearing loss by interfering with critical steps in processing sound. " "Below is an instruction from Human. Write a response. ### Instruction: Is nonsyndromic hearing loss inherited ? ### Response: As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but does not have hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for nonsyndromic hearing loss ? ### Response: These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cap myopathy ? ### Response: Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) cap myopathy ? ### Response: Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to cap myopathy ? ### Response: Mutations in the ACTA1, TPM2, or TPM3 genes can cause cap myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. The ACTA1 gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. " "Below is an instruction from Human. Write a response. ### Instruction: Is cap myopathy inherited ? ### Response: Cap myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for cap myopathy ? ### Response: These resources address the diagnosis or management of cap myopathy: - Genetic Testing Registry: TPM2-related cap myopathy - Genetic Testing Registry: cap myopathy These resources from MedlinePlus offer information about the diagnosis and management of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Donnai-Barrow syndrome ? ### Response: Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Donnai-Barrow syndrome ? ### Response: Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Donnai-Barrow syndrome ? ### Response: Mutations in the LRP2 gene cause Donnai-Barrow syndrome. The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. " "Below is an instruction from Human. Write a response. ### Instruction: Is Donnai-Barrow syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Donnai-Barrow syndrome ? ### Response: These resources address the diagnosis or management of Donnai-Barrow syndrome: - Gene Review: Gene Review: Donnai-Barrow Syndrome - Genetic Testing Registry: Donnai Barrow syndrome - MedlinePlus Encyclopedia: Diaphragmatic Hernia - MedlinePlus Encyclope " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal coloboma syndrome ? ### Response: Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal coloboma syndrome ? ### Response: Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to renal coloboma syndrome ? ### Response: Renal coloboma syndrome is caused by mutations in the PAX2 gene. The PAX2 gene provides instructions for making a protein that is involved in the early development of the eyes, ears, brain and spinal cord (central nervous system), kidneys, and genital tract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to renal coloboma syndrome ? ### Response: Renal coloboma syndrome is caused by mutations in the PAX2 gene. The PAX2 gene provides instructions for making a protein that is involved in the early development of the eyes, ears, brain and spinal cord (central nervous system), kidneys, and genital tract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for renal coloboma syndrome ? ### Response: These resources address the diagnosis or management of renal coloboma syndrome: - Gene Review: Gene Review: Renal Coloboma Syndrome - Genetic Testing Registry: Renal coloboma syndrome These resources from MedlinePlus offer information about the diagnosi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sjgren-Larsson syndrome ? ### Response: Sjgren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age. Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Sjgren-Larsson syndrome ? ### Response: Mutations in the ALDH3A2 gene cause Sjgren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sjgren-Larsson syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sjgren-Larsson syndrome ? ### Response: These resources address the diagnosis or management of Sjgren-Larsson syndrome: - Genetic Testing Registry: Sjgren-Larsson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHMP2B-related frontotemporal dementia ? ### Response: CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHMP2B-related frontotemporal dementia ? ### Response: CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CHMP2B-related frontotemporal dementia ? ### Response: CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CHMP2B-related frontotemporal dementia ? ### Response: CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CHMP2B-related frontotemporal dementia ? ### Response: These resources address the diagnosis or management of CHMP2B-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: Frontotemporal Dementia, Chromosome 3-Linked - Genetic Testing Registry: Frontotemporal Dementia, Chrom " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tetrahydrobiopterin deficiency ? ### Response: Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by tetrahydrobiopterin deficiency ? ### Response: This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 million newborns. In most parts of the world, tetrahydrobiopterin deficiency accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The remaining cases are caused by a similar condition called phenylketonuria (PKU). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tetrahydrobiopterin deficiency ? ### Response: Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes provide instructions for making enzymes that help produce and recycle tetrahydrobiopterin in the body. Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine. " "Below is an instruction from Human. Write a response. ### Instruction: Is tetrahydrobiopterin deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tetrahydrobiopterin deficiency ? ### Response: These resources address the diagnosis or management of tetrahydrobiopterin deficiency: - Baby's First Test: Biopterin Defect in Cofactor Biosynthesis - Baby's First Test: Biopterin Defect in Cofactor Regeneration - Genetic Testing Registry: 6-pyruvoyl-te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weissenbacher-Zweymller syndrome ? ### Response: Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weissenbacher-Zweymller syndrome ? ### Response: Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Weissenbacher-Zweymller syndrome ? ### Response: Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Weissenbacher-Zweymller syndrome ? ### Response: Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Weissenbacher-Zweymller syndrome ? ### Response: These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dystonia 6 ? ### Response: Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dystonia 6 ? ### Response: Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. " "Below is an instruction from Human. Write a response. ### Instruction: Is dystonia 6 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. Some people who inherit the altered gene never develop the condition, a situation known as reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dystonia 6 ? ### Response: These resources address the diagnosis or management of dystonia 6: - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Dystonia 6, torsion These resources from MedlinePlus offer information about the diagnosis and management of var " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal and bulbar muscular atrophy ? ### Response: Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinal and bulbar muscular atrophy ? ### Response: Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinal and bulbar muscular atrophy ? ### Response: Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. This gene provides instructions for making a protein called an androgen receptor. This receptor attaches (binds) to a class of hormones called androgens, which are involved in male sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinal and bulbar muscular atrophy inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinal and bulbar muscular atrophy ? ### Response: These resources address the diagnosis or management of spinal and bulbar muscular atrophy: - Gene Review: Gene Review: Spinal and Bulbar Muscular Atrophy - Genetic Testing Registry: Bulbo-spinal atrophy X-linked - MedlinePlus Encyclopedia: Muscle Atrophy " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? ### Response: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? ### Response: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. Approximately 30 cases have been described in the scientific literature, including seven families with Navajo neurohepatopathy. Within the Navajo Nation of the southwestern United States, Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns. " "Below is an instruction from Human. Write a response. ### Instruction: Is MPV17-related hepatocerebral mitochondrial DNA depletion syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? ### Response: These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neur " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHARGE syndrome ? ### Response: CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHARGE syndrome ? ### Response: CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to CHARGE syndrome ? ### Response: Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is CHARGE syndrome inherited ? ### Response: CHARGE syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CHARGE syndrome ? ### Response: These resources address the diagnosis or management of CHARGE syndrome: - Gene Review: Gene Review: CHARGE Syndrome - Genetic Testing Registry: CHARGE association - MedlinePlus Encyclopedia: Choanal atresia - MedlinePlus Encyclopedia: Coloboma - Medlin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 8p11 myeloproliferative syndrome ? ### Response: 8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 8p11 myeloproliferative syndrome ? ### Response: 8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 8p11 myeloproliferative syndrome ? ### Response: 8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 8p11 myeloproliferative syndrome ? ### Response: 8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 8p11 myeloproliferative syndrome ? ### Response: These resources address the diagnosis or management of 8p11 myeloproliferative syndrome: - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options - Cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hepatic lipase deficiency ? ### Response: Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hepatic lipase deficiency ? ### Response: Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hepatic lipase deficiency ? ### Response: Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to LDLs. " "Below is an instruction from Human. Write a response. ### Instruction: Is hepatic lipase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hepatic lipase deficiency ? ### Response: These resources address the diagnosis or management of hepatic lipase deficiency: - Genetic Testing Registry: Hepatic lipase deficiency - MedlinePlus Encyclopedia: Cholesterol Testing and Results - MedlinePlus Encyclopedia: Triglyceride Level These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) C3 glomerulopathy ? ### Response: C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) C3 glomerulopathy ? ### Response: C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to C3 glomerulopathy ? ### Response: C3 glomerulopathy is associated with changes in many genes. Most of these genes provide instructions for making proteins that help regulate a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is C3 glomerulopathy inherited ? ### Response: Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for C3 glomerulopathy ? ### Response: These resources address the diagnosis or management of C3 glomerulopathy: - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: C3 Glomerulonephritis - Genetic Testing Registry: C " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spina bifida ? ### Response: Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by spina bifida ? ### Response: Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hispanic whites than in African Americans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spina bifida ? ### Response: Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with spina bifida and in their mothers may influence the risk of developing this type of neural tube defect. " "Below is an instruction from Human. Write a response. ### Instruction: Is spina bifida inherited ? ### Response: Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spina bifida ? ### Response: These resources address the diagnosis or management of spina bifida: - Benioff Children's Hospital, University of California, San Francisco: Treatment of Spina Bifida - Centers for Disease Control and Prevention: Living with Spina Bifida - GeneFacts: Spi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mandibuloacral dysplasia ? ### Response: Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mandibuloacral dysplasia ? ### Response: Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mandibuloacral dysplasia ? ### Response: The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes. " "Below is an instruction from Human. Write a response. ### Instruction: Is mandibuloacral dysplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mandibuloacral dysplasia ? ### Response: These resources address the diagnosis or management of mandibuloacral dysplasia: - Genetic Testing Registry: Mandibuloacral dysostosis - Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy These resources from MedlinePlus offer " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type VI ? ### Response: Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mucopolysaccharidosis type VI ? ### Response: Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mucopolysaccharidosis type VI ? ### Response: Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. " "Below is an instruction from Human. Write a response. ### Instruction: Is mucopolysaccharidosis type VI inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mucopolysaccharidosis type VI ? ### Response: These resources address the diagnosis or management of mucopolysaccharidosis type VI: - Emory University Lysosomal Storage Disease Center - Genetic Testing Registry: Mucopolysaccharidosis type VI - MedlinePlus Encyclopedia: Mucopolysaccharides - Nationa " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary neuralgic amyotrophy ? ### Response: Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary neuralgic amyotrophy ? ### Response: Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary neuralgic amyotrophy ? ### Response: Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary neuralgic amyotrophy ? ### Response: These resources address the diagnosis or management of hereditary neuralgic amyotrophy: - Gene Review: Gene Review: Hereditary Neuralgic Amyotrophy - Genetic Testing Registry: Hereditary neuralgic amyotrophy These resources from MedlinePlus offer inform " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sialidosis ? ### Response: Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sialidosis ? ### Response: Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sialidosis ? ### Response: Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid. " "Below is an instruction from Human. Write a response. ### Instruction: Is sialidosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sialidosis ? ### Response: These resources address the diagnosis or management of sialidosis: - Genetic Testing Registry: Sialidosis type I - Genetic Testing Registry: Sialidosis, type II - MedlinePlus Encyclopedia: Ascites - MedlinePlus Encyclopedia: Hydrops Fetalis These reso " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tetra-amelia syndrome ? ### Response: Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. (""Tetra"" is the Greek word for ""four,"" and ""amelia"" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tetra-amelia syndrome ? ### Response: Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. (""Tetra"" is the Greek word for ""four,"" and ""amelia"" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tetra-amelia syndrome ? ### Response: Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: Is tetra-amelia syndrome inherited ? ### Response: In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tetra-amelia syndrome ? ### Response: These resources address the diagnosis or management of tetra-amelia syndrome: - Gene Review: Gene Review: Tetra-Amelia Syndrome - Genetic Testing Registry: Tetraamelia, autosomal recessive These resources from MedlinePlus offer information about the dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trichohepatoenteric syndrome ? ### Response: Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trichohepatoenteric syndrome ? ### Response: Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to trichohepatoenteric syndrome ? ### Response: Trichohepatoenteric syndrome can be caused by mutations in the TTC37 or SKIV2L gene. These genes provide instructions for making proteins whose functions have not been confirmed. Researchers speculate that they work together with other proteins within cells to help recognize and break down excess or abnormal messenger RNA (mRNA) molecules. " "Below is an instruction from Human. Write a response. ### Instruction: Is trichohepatoenteric syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for trichohepatoenteric syndrome ? ### Response: These resources address the diagnosis or management of trichohepatoenteric syndrome: - American Society for Parenteral and Enteral Nutrition: What is Parenteral Nutrition? - Genetic Testing Registry: Trichohepatoenteric syndrome - Genetic Testing Registr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) abetalipoproteinemia ? ### Response: Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) abetalipoproteinemia ? ### Response: Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to abetalipoproteinemia ? ### Response: Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is abetalipoproteinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for abetalipoproteinemia ? ### Response: These resources address the diagnosis or management of abetalipoproteinemia: - Genetic Testing Registry: Abetalipoproteinaemia - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome - MedlinePlus Encyclopedia: Malabsorption - MedlinePlus Encyclopedia: Re " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by X-linked intellectual disability, Siderius type ? ### Response: While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked intellectual disability, Siderius type ? ### Response: X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked intellectual disability, Siderius type inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked intellectual disability, Siderius type ? ### Response: These resources address the diagnosis or management of X-linked intellectual disability, Siderius type: - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding - Cleveland Clinic: Cleft Lip & Palate Surgery - Genetic Testing Registry: S " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myofibrillar myopathy ? ### Response: Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myofibrillar myopathy ? ### Response: Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myofibrillar myopathy ? ### Response: Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myofibrillar myopathy ? ### Response: Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myofibrillar myopathy ? ### Response: These resources address the diagnosis or management of myofibrillar myopathy: - Gene Review: Gene Review: Myofibrillar Myopathy - Genetic Testing Registry: Alpha-B crystallinopathy - Genetic Testing Registry: Myofibrillar myopathy - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rotor syndrome ? ### Response: Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rotor syndrome ? ### Response: Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Rotor syndrome ? ### Response: The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. " "Below is an instruction from Human. Write a response. ### Instruction: Is Rotor syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rotor syndrome ? ### Response: These resources address the diagnosis or management of Rotor syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Gene Review: Gene Review: Rotor Syndrome - Genetic Testing Registry: Rotor syndrome These resour " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bart-Pumphrey syndrome ? ### Response: Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bart-Pumphrey syndrome ? ### Response: Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bart-Pumphrey syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bart-Pumphrey syndrome ? ### Response: These resources address the diagnosis or management of Bart-Pumphrey syndrome: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amish lethal microcephaly ? ### Response: Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain. Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amish lethal microcephaly ? ### Response: Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain. Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Amish lethal microcephaly ? ### Response: Mutations in the SLC25A19 gene cause Amish lethal microcephaly. The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. " "Below is an instruction from Human. Write a response. ### Instruction: Is Amish lethal microcephaly inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amish lethal microcephaly ? ### Response: These resources address the diagnosis or management of Amish lethal microcephaly: - Gene Review: Gene Review: Amish Lethal Microcephaly - Genetic Testing Registry: Amish lethal microcephaly - MedlinePlus Encyclopedia: Microcephaly These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miyoshi myopathy ? ### Response: Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miyoshi myopathy ? ### Response: Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Miyoshi myopathy ? ### Response: Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When this condition is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). " "Below is an instruction from Human. Write a response. ### Instruction: Is Miyoshi myopathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Miyoshi myopathy ? ### Response: These resources address the diagnosis or management of Miyoshi myopathy: - Gene Review: Gene Review: ANO5-Related Muscle Diseases - Gene Review: Gene Review: Dysferlinopathy - Genetic Testing Registry: Miyoshi muscular dystrophy 1 - Genetic Testing Regi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Response: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of the male sex hormone testosterone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Response: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of the male sex hormone testosterone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Response: Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a precursor hormone called androstenedione. " "Below is an instruction from Human. Write a response. ### Instruction: Is 17-beta hydroxysteroid dehydrogenase 3 deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Response: These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency: - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gastrointestinal stromal tumor ? ### Response: A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) gastrointestinal stromal tumor ? ### Response: A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to gastrointestinal stromal tumor ? ### Response: Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic GISTs. " "Below is an instruction from Human. Write a response. ### Instruction: Is gastrointestinal stromal tumor inherited ? ### Response: Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime. In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for gastrointestinal stromal tumor ? ### Response: These resources address the diagnosis or management of gastrointestinal stromal tumor: - American Cancer Society: Treating Gastrointestinal Stromal Tumor (GIST) - Cancer.Net: Gastrointestinal Stromal Tumor--Diagnosis - Genetic Testing Registry: Gastroint " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) recombinant 8 syndrome ? ### Response: Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by recombinant 8 syndrome ? ### Response: Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to recombinant 8 syndrome ? ### Response: Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. " "Below is an instruction from Human. Write a response. ### Instruction: Is recombinant 8 syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for recombinant 8 syndrome ? ### Response: These resources address the diagnosis or management of recombinant 8 syndrome: - Genetic Testing Registry: Recombinant chromosome 8 syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health condition " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) triple X syndrome ? ### Response: Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) triple X syndrome ? ### Response: Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to triple X syndrome ? ### Response: People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). " "Below is an instruction from Human. Write a response. ### Instruction: Is triple X syndrome inherited ? ### Response: Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for triple X syndrome ? ### Response: These resources address the diagnosis or management of triple X syndrome: - Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome - Genetic Testing Registry: Trisomy X syndrome These resources from MedlinePlus offer information about " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Norrie disease ? ### Response: Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Norrie disease ? ### Response: Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Norrie disease ? ### Response: Mutations in the NDP gene cause Norrie disease. The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. " "Below is an instruction from Human. Write a response. ### Instruction: Is Norrie disease inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Norrie disease ? ### Response: These resources address the diagnosis or management of Norrie disease: - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Atrophia bulborum hereditaria These resources from MedlinePlus offer information about the diagnosis " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sepiapterin reductase deficiency ? ### Response: Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sepiapterin reductase deficiency ? ### Response: Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sepiapterin reductase deficiency ? ### Response: Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step in the production of tetrahydrobiopterin. " "Below is an instruction from Human. Write a response. ### Instruction: Is sepiapterin reductase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sepiapterin reductase deficiency ? ### Response: These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer inf " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial acute myeloid leukemia with mutated CEBPA ? ### Response: Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial acute myeloid leukemia with mutated CEBPA ? ### Response: As its name suggests, familial acute myeloid leukemia with mutated CEBPA is caused by mutations in the CEBPA gene that are passed down within families. These inherited mutations are present throughout a person's life in virtually every cell in the body. The CEBPA gene provides instructions for making a protein called CCAAT/enhancer-binding protein alpha. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial acute myeloid leukemia with mutated CEBPA inherited ? ### Response: Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. Most affected individuals also acquire a second, somatic CEBPA gene mutation in their leukemia cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carney complex ? ### Response: Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carney complex ? ### Response: Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Carney complex ? ### Response: Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein kinase A is turned on or off. " "Below is an instruction from Human. Write a response. ### Instruction: Is Carney complex inherited ? ### Response: Carney complex is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 80 percent of cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Carney complex ? ### Response: These resources address the diagnosis or management of Carney complex: - Gene Review: Gene Review: Carney Complex - Genetic Testing Registry: Carney complex - Genetic Testing Registry: Carney complex, type 1 - Genetic Testing Registry: Carney complex, t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peutz-Jeghers syndrome ? ### Response: Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Peutz-Jeghers syndrome ? ### Response: Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. " "Below is an instruction from Human. Write a response. ### Instruction: Is Peutz-Jeghers syndrome inherited ? ### Response: Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peutz-Jeghers syndrome ? ### Response: These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome These resources from " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital sucrase-isomaltase deficiency ? ### Response: Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by congenital sucrase-isomaltase deficiency ? ### Response: The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital sucrase-isomaltase deficiency ? ### Response: Mutations in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital sucrase-isomaltase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital sucrase-isomaltase deficiency ? ### Response: These resources address the diagnosis or management of congenital sucrase-isomaltase deficiency: - Genetic Testing Registry: Sucrase-isomaltase deficiency - MedlinePlus Encyclopedia: Abdominal bloating - MedlinePlus Encyclopedia: Inborn errors of metabol " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermal nevus ? ### Response: An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) epidermal nevus ? ### Response: An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to epidermal nevus ? ### Response: Mutations in the FGFR3 gene have been found in approximately 30 percent of people with a type of nevus in the keratinocytic epidermal nevi group. The gene mutations involved in most epidermal nevi are unknown. Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it. " "Below is an instruction from Human. Write a response. ### Instruction: Is epidermal nevus inherited ? ### Response: This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation. Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for epidermal nevus ? ### Response: These resources address the diagnosis or management of epidermal nevus: - Genetic Testing Registry: Epidermal nevus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) trisomy 18 ? ### Response: Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by trisomy 18 ? ### Response: Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to trisomy 18 ? ### Response: Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body's cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is trisomy 18 inherited ? ### Response: Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for trisomy 18 ? ### Response: These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of v " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langer-Giedion syndrome ? ### Response: Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langer-Giedion syndrome ? ### Response: Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Langer-Giedion syndrome ? ### Response: Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Langer-Giedion syndrome inherited ? ### Response: Most cases of Langer-Giedion syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Langer-Giedion syndrome ? ### Response: These resources address the diagnosis or management of Langer-Giedion syndrome: - Genetic Testing Registry: Langer-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leigh syndrome ? ### Response: Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leigh syndrome ? ### Response: Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Leigh syndrome ? ### Response: Leigh syndrome can be caused by mutations in one of over 30 different genes. In humans, most genes are found in DNA in the cell's nucleus, called nuclear DNA. However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). " "Below is an instruction from Human. Write a response. ### Instruction: Is Leigh syndrome inherited ? ### Response: Leigh syndrome can have different inheritance patterns. It is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. This pattern of inheritance applies to genes contained in nuclear DNA. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leigh syndrome ? ### Response: These resources address the diagnosis or management of Leigh syndrome: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Nuclear Gene-Encoded Leigh Syndrome Overview - Genetic Testing Registry: L " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) heterotaxy syndrome ? ### Response: Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term ""heterotaxy"" is from the Greek words ""heteros,"" meaning ""other than,"" and ""taxis,"" meaning ""arrangement."" Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by heterotaxy syndrome ? ### Response: The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people worldwide. However, researchers suspect that the condition is underdiagnosed, and so it may actually be more common than this. Heterotaxy syndrome accounts for approximately 3 percent of all congenital heart defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to heterotaxy syndrome ? ### Response: Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. " "Below is an instruction from Human. Write a response. ### Instruction: Is heterotaxy syndrome inherited ? ### Response: Most often, heterotaxy syndrome is sporadic, meaning that only one person in a family is affected. However, about 10 percent of people with heterotaxy syndrome have a close relative (such as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for heterotaxy syndrome ? ### Response: These resources address the diagnosis or management of heterotaxy syndrome: - Boston Children's Hospital: Tests for Heterotaxy Syndrome - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Atrioventricular septal defect, par " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital bilateral absence of the vas deferens ? ### Response: Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital bilateral absence of the vas deferens ? ### Response: Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to congenital bilateral absence of the vas deferens ? ### Response: Mutations in the CFTR gene cause congenital bilateral absence of the vas deferens. More than half of all men with this condition have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When congenital bilateral absence of the vas deferens occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital bilateral absence of the vas deferens inherited ? ### Response: When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Men with this condition who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital bilateral absence of the vas deferens ? ### Response: These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Congenital bilateral absence of the vas deferens - MedlinePlus Encyclo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial trifunctional protein deficiency ? ### Response: Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mitochondrial trifunctional protein deficiency ? ### Response: Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mitochondrial trifunctional protein deficiency ? ### Response: Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is mitochondrial trifunctional protein deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mitochondrial trifunctional protein deficiency ? ### Response: These resources address the diagnosis or management of mitochondrial trifunctional protein deficiency: - Baby's First Test - Genetic Testing Registry: Mitochondrial trifunctional protein deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type I ? ### Response: Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type I ? ### Response: Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type I ? ### Response: Mutations in two genes, G6PC and SLC37A4, cause GSDI. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type I inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type I ? ### Response: These resources address the diagnosis or management of glycogen storage disease type I: - American Liver Foundation - Canadian Liver Foundation - Gene Review: Gene Review: Glycogen Storage Disease Type I - Genetic Testing Registry: Glucose-6-phosphate t " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) short-chain acyl-CoA dehydrogenase deficiency ? ### Response: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to short-chain acyl-CoA dehydrogenase deficiency ? ### Response: Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. " "Below is an instruction from Human. Write a response. ### Instruction: Is short-chain acyl-CoA dehydrogenase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for short-chain acyl-CoA dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of SCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency - Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase - MedlinePlus Encyc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Refsum disease ? ### Response: Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Refsum disease ? ### Response: Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Refsum disease ? ### Response: More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7. The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid. " "Below is an instruction from Human. Write a response. ### Instruction: Is Refsum disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Refsum disease ? ### Response: These resources address the diagnosis or management of Refsum disease: - Gene Review: Gene Review: Refsum Disease - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Phytanic acid storage disease - MedlinePlus Encyclope " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DMD-associated dilated cardiomyopathy ? ### Response: DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DMD-associated dilated cardiomyopathy ? ### Response: DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to DMD-associated dilated cardiomyopathy ? ### Response: DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is DMD-associated dilated cardiomyopathy inherited ? ### Response: DMD-associated dilated cardiomyopathy has an X-linked pattern of inheritance. The DMD gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that appears later in life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for DMD-associated dilated cardiomyopathy ? ### Response: These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Dilated cardiomyopathy 3B " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) sporadic hemiplegic migraine ? ### Response: Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by sporadic hemiplegic migraine ? ### Response: The worldwide prevalence of sporadic hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the condition (sporadic hemiplegic migraine). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to sporadic hemiplegic migraine ? ### Response: Mutations in the ATP1A2 and CACNA1A genes have been found to cause sporadic hemiplegic migraine. The proteins produced from these genes transport charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: Is sporadic hemiplegic migraine inherited ? ### Response: Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for sporadic hemiplegic migraine ? ### Response: These resources address the diagnosis or management of sporadic hemiplegic migraine: - Genetic Testing Registry: Migraine, sporadic hemiplegic - Journal of the American Medical Association Patient Page: Migraine Headache These resources from MedlinePlus " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) isolated Duane retraction syndrome ? ### Response: Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by isolated Duane retraction syndrome ? ### Response: Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to isolated Duane retraction syndrome ? ### Response: In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: Is isolated Duane retraction syndrome inherited ? ### Response: Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for isolated Duane retraction syndrome ? ### Response: These resources address the diagnosis or management of isolated Duane retraction syndrome: - Gene Review: Gene Review: Duane Syndrome - Genetic Testing Registry: Duane's syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing These res " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Farber lipogranulomatosis ? ### Response: Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Farber lipogranulomatosis ? ### Response: Mutations in the ASAH1 gene cause Farber lipogranulomatosis. The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials. Acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. " "Below is an instruction from Human. Write a response. ### Instruction: Is Farber lipogranulomatosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Farber lipogranulomatosis ? ### Response: These resources address the diagnosis or management of Farber lipogranulomatosis: - Genetic Testing Registry: Farber's lipogranulomatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oculofaciocardiodental syndrome ? ### Response: Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) oculofaciocardiodental syndrome ? ### Response: Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to oculofaciocardiodental syndrome ? ### Response: Mutations in the BCOR gene cause OFCD syndrome. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: Is oculofaciocardiodental syndrome inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for oculofaciocardiodental syndrome ? ### Response: These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health co " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) VLDLR-associated cerebellar hypoplasia ? ### Response: VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) VLDLR-associated cerebellar hypoplasia ? ### Response: VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ? ### Response: As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is VLDLR-associated cerebellar hypoplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for VLDLR-associated cerebellar hypoplasia ? ### Response: These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia: - Gene Review: Gene Review: Hereditary Ataxia Overview - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia - Genetic Testing Registry: Dysequili " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin-Siris syndrome ? ### Response: Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin-Siris syndrome ? ### Response: Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Coffin-Siris syndrome ? ### Response: Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. " "Below is an instruction from Human. Write a response. ### Instruction: Is Coffin-Siris syndrome inherited ? ### Response: Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the condition is not usually inherited from an affected parent, but occurs from new (de novo) mutations in the gene that likely occur during early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coffin-Siris syndrome ? ### Response: These resources address the diagnosis or management of Coffin-Siris syndrome: - Gene Review: Gene Review: Coffin-Siris Syndrome - Genetic Testing Registry: Coffin-Siris syndrome These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hidradenitis suppurativa ? ### Response: Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hidradenitis suppurativa ? ### Response: Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hidradenitis suppurativa ? ### Response: In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. " "Below is an instruction from Human. Write a response. ### Instruction: Is hidradenitis suppurativa inherited ? ### Response: Hidradenitis suppurativa has been reported to run in families. Studies have found that 30 to 40 percent of affected individuals have at least one family member with the disorder. However, this finding may be an underestimate because affected individuals do not always tell their family members that they have the condition, and hidradenitis suppurativa is sometimes misdiagnosed as other skin disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hidradenitis suppurativa ? ### Response: These resources address the diagnosis or management of hidradenitis suppurativa: - American Academy of Dermatology: Hidradenitis Suppurativa: Diagnosis, Treatment, and Outcome - Genetic Testing Registry: Hidradenitis suppurativa, familial These resource " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GRN-related frontotemporal dementia ? ### Response: GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GRN-related frontotemporal dementia ? ### Response: GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GRN-related frontotemporal dementia ? ### Response: GRN-related frontotemporal dementia results from mutations in the GRN gene. This gene provides instructions for making a protein called granulin (also known as progranulin). Granulin is active in many different tissues in the body, where it helps control the growth, division, and survival of cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to GRN-related frontotemporal dementia ? ### Response: GRN-related frontotemporal dementia results from mutations in the GRN gene. This gene provides instructions for making a protein called granulin (also known as progranulin). Granulin is active in many different tissues in the body, where it helps control the growth, division, and survival of cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GRN-related frontotemporal dementia ? ### Response: These resources address the diagnosis or management of GRN-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: GRN-Related Frontotemporal Dementia - Genetic Testing Registry: Frontotemporal dementia, ubiquitin-positiv " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) IRAK-4 deficiency ? ### Response: IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) IRAK-4 deficiency ? ### Response: IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to IRAK-4 deficiency ? ### Response: IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and the initiation of inflammation to fight infection. " "Below is an instruction from Human. Write a response. ### Instruction: Is IRAK-4 deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for IRAK-4 deficiency ? ### Response: These resources address the diagnosis or management of IRAK-4 deficiency: - Genetic Testing Registry: IRAK4 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) WAGR syndrome ? ### Response: WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation). People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) WAGR syndrome ? ### Response: WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation). People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to WAGR syndrome ? ### Response: WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. " "Below is an instruction from Human. Write a response. ### Instruction: Is WAGR syndrome inherited ? ### Response: Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for WAGR syndrome ? ### Response: These resources address the diagnosis or management of WAGR syndrome: - Gene Review: Gene Review: Aniridia - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: 11p partial monosomy syndrome - Genetic Testing Registry: Wilms tumor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pontocerebellar hypoplasia ? ### Response: Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term ""pontocerebellar"" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) pontocerebellar hypoplasia ? ### Response: Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term ""pontocerebellar"" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is pontocerebellar hypoplasia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for pontocerebellar hypoplasia ? ### Response: These resources address the diagnosis or management of pontocerebellar hypoplasia: - Gene Review: Gene Review: EXOSC3-Related Pontocerebellar Hypoplasia - Gene Review: Gene Review: TSEN54-Related Pontocerebellar Hypoplasia - Genetic Testing Registry: Pon " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Imerslund-Grsbeck syndrome ? ### Response: Imerslund-Grsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Imerslund-Grsbeck syndrome ? ### Response: Imerslund-Grsbeck syndrome is a rare condition that was first described in Finland and Norway; in these regions, the condition is estimated to affect 1 in 200,000 people. The condition has also been reported in other countries worldwide; its prevalence in these countries is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Imerslund-Grsbeck syndrome ? ### Response: Mutations in the AMN or CUBN gene can cause Imerslund-Grsbeck syndrome. The AMN gene provides instructions for making a protein called amnionless, and the CUBN gene provides instructions for making a protein called cubilin. Together, these proteins play a role in the uptake of vitamin B12 from food. " "Below is an instruction from Human. Write a response. ### Instruction: Is Imerslund-Grsbeck syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Imerslund-Grsbeck syndrome ? ### Response: These resources address the diagnosis or management of Imerslund-Grsbeck syndrome: - MedlinePlus Encyclopedia: Anemia - B12 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fukuyama congenital muscular dystrophy ? ### Response: Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Fukuyama congenital muscular dystrophy ? ### Response: Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Fukuyama congenital muscular dystrophy ? ### Response: Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha ()-dystroglycan. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fukuyama congenital muscular dystrophy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fukuyama congenital muscular dystrophy ? ### Response: These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klinefelter syndrome ? ### Response: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Klinefelter syndrome ? ### Response: Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Klinefelter syndrome ? ### Response: Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). " "Below is an instruction from Human. Write a response. ### Instruction: Is Klinefelter syndrome inherited ? ### Response: Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klinefelter syndrome ? ### Response: These resources address the diagnosis or management of Klinefelter syndrome: - Genetic Testing Registry: Klinefelter's syndrome, XXY - MedlinePlus Encyclopedia: Klinefelter Syndrome - MedlinePlus Encyclopedia: Testicular Failure These resources from Me " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Majeed syndrome ? ### Response: Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Majeed syndrome ? ### Response: Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Majeed syndrome ? ### Response: Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Majeed syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Majeed syndrome ? ### Response: These resources address the diagnosis or management of Majeed syndrome: - Gene Review: Gene Review: Majeed Syndrome - Genetic Testing Registry: Majeed syndrome - MedlinePlus Encyclopedia: Osteomyelitis - MedlinePlus Encyclopedia: Psoriasis These resou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) L1 syndrome ? ### Response: L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lower limbs, intellectual disability, increased fluid in the center of the brain (hydrocephalus), and thumbs bent toward the palm (adducted thumbs). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) L1 syndrome ? ### Response: L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lower limbs, intellectual disability, increased fluid in the center of the brain (hydrocephalus), and thumbs bent toward the palm (adducted thumbs). " "Below is an instruction from Human. Write a response. ### Instruction: Is L1 syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for L1 syndrome ? ### Response: These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - G " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Christianson syndrome ? ### Response: Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Christianson syndrome ? ### Response: Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Christianson syndrome ? ### Response: Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other materials. " "Below is an instruction from Human. Write a response. ### Instruction: Is Christianson syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Christianson syndrome ? ### Response: These resources address the diagnosis or management of Christianson syndrome: - Genetic Testing Registry: Christianson syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypokalemic periodic paralysis ? ### Response: Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypokalemic periodic paralysis ? ### Response: Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypokalemic periodic paralysis ? ### Response: Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypokalemic periodic paralysis ? ### Response: Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypokalemic periodic paralysis ? ### Response: These resources address the diagnosis or management of hypokalemic periodic paralysis: - Gene Review: Gene Review: Hypokalemic Periodic Paralysis - Genetic Testing Registry: Hypokalemic periodic paralysis - MedlinePlus Encyclopedia: Hypokalemic periodic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Townes-Brocks Syndrome ? ### Response: Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Townes-Brocks Syndrome ? ### Response: The prevalence of this condition is unknown, although one study estimated that it may affect 1 in 250,000 people. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Townes-Brocks Syndrome ? ### Response: Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Townes-Brocks Syndrome ? ### Response: Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Townes-Brocks Syndrome ? ### Response: These resources address the diagnosis or management of Townes-Brocks Syndrome: - Gene Review: Gene Review: Townes-Brocks Syndrome - Genetic Testing Registry: Townes syndrome - MedlinePlus Encyclopedia: Ear Disorders (image) - MedlinePlus Encyclopedia: I " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type IV ? ### Response: Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glycogen storage disease type IV ? ### Response: Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glycogen storage disease type IV ? ### Response: Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: Is glycogen storage disease type IV inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glycogen storage disease type IV ? ### Response: These resources address the diagnosis or management of glycogen storage disease type IV: - Gene Review: Gene Review: Glycogen Storage Disease Type IV - Genetic Testing Registry: Glycogen storage disease, type IV - MedlinePlus Encyclopedia: Dilated Cardio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) color vision deficiency ? ### Response: Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by color vision deficiency ? ### Response: Red-green color vision defects are the most common form of color vision deficiency. This condition affects males much more often than females. Among populations with Northern European ancestry, it occurs in about 1 in 12 males and 1 in 200 females. Red-green color vision defects have a lower incidence in almost all other populations studied. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to color vision deficiency ? ### Response: Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. They are found in the retina, which is the light-sensitive tissue at the back of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: Is color vision deficiency inherited ? ### Response: Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for color vision deficiency ? ### Response: These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked creatine deficiency ? ### Response: X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked creatine deficiency ? ### Response: X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to X-linked creatine deficiency ? ### Response: Mutations in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly. SLC6A8 gene mutations impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage (deficiency). " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked creatine deficiency inherited ? ### Response: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked creatine deficiency ? ### Response: These resources address the diagnosis or management of X-linked creatine deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Creatine deficiency, X-linked These resources from MedlinePlus offer information a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin-Lowry syndrome ? ### Response: Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin-Lowry syndrome ? ### Response: Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Coffin-Lowry syndrome ? ### Response: Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene provides instructions for making a protein that is involved in signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Coffin-Lowry syndrome inherited ? ### Response: This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coffin-Lowry syndrome ? ### Response: These resources address the diagnosis or management of Coffin-Lowry syndrome: - Gene Review: Gene Review: Coffin-Lowry Syndrome - Genetic Testing Registry: Coffin-Lowry syndrome These resources from MedlinePlus offer information about the diagnosis and " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hutchinson-Gilford progeria syndrome ? ### Response: Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hutchinson-Gilford progeria syndrome ? ### Response: Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Hutchinson-Gilford progeria syndrome ? ### Response: Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hutchinson-Gilford progeria syndrome inherited ? ### Response: Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hutchinson-Gilford progeria syndrome ? ### Response: These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome: - Gene Review: Gene Review: Hutchinson-Gilford Progeria Syndrome - Genetic Testing Registry: Hutchinson-Gilford syndrome - MedlinePlus Encyclopedia: Progeria T " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lattice corneal dystrophy type I ? ### Response: Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by lattice corneal dystrophy type I ? ### Response: Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lattice corneal dystrophy type I ? ### Response: Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and provides structural support to tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lattice corneal dystrophy type I ? ### Response: Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and provides structural support to tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lattice corneal dystrophy type I ? ### Response: These resources address the diagnosis or management of lattice corneal dystrophy type I: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Lattice corneal dystrophy Type I - Merck Manual Home Health Edition: Diagnos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Emanuel syndrome ? ### Response: Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Emanuel syndrome ? ### Response: Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Emanuel syndrome ? ### Response: Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. " "Below is an instruction from Human. Write a response. ### Instruction: Is Emanuel syndrome inherited ? ### Response: Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Emanuel syndrome ? ### Response: These resources address the diagnosis or management of Emanuel syndrome: - Gene Review: Gene Review: Emanuel Syndrome - Genetic Testing Registry: Emanuel syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Microcephaly " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital neuronal ceroid lipofuscinosis ? ### Response: Congenital neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Soon after birth, affected infants develop muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) congenital neuronal ceroid lipofuscinosis ? ### Response: Congenital neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Soon after birth, affected infants develop muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). " "Below is an instruction from Human. Write a response. ### Instruction: Is congenital neuronal ceroid lipofuscinosis inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for congenital neuronal ceroid lipofuscinosis ? ### Response: These resources address the diagnosis or management of congenital neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Neuronal ceroid lipofuscinosis, congenital These resources from MedlinePlus offer information about the diagnosis and management " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) malignant hyperthermia ? ### Response: Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by malignant hyperthermia ? ### Response: Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that trigger a reaction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to malignant hyperthermia ? ### Response: Variations of the CACNA1S and RYR1 genes increase the risk of developing malignant hyperthermia. Researchers have described at least six forms of malignant hyperthermia susceptibility, which are caused by mutations in different genes. Mutations in the RYR1 gene are responsible for a form of the condition known as MHS1. " "Below is an instruction from Human. Write a response. ### Instruction: Is malignant hyperthermia inherited ? ### Response: Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also at risk for the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for malignant hyperthermia ? ### Response: These resources address the diagnosis or management of malignant hyperthermia: - Gene Review: Gene Review: Malignant Hyperthermia Susceptibility - Genetic Testing Registry: Malignant hyperthermia susceptibility type 1 - Genetic Testing Registry: Malignan " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) small fiber neuropathy ? ### Response: Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) small fiber neuropathy ? ### Response: Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to small fiber neuropathy ? ### Response: Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy. These genes provide instructions for making pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit for the NaV1.7 sodium channel and the SCN10A gene instructs the production of the alpha subunit for the NaV1. " "Below is an instruction from Human. Write a response. ### Instruction: Is small fiber neuropathy inherited ? ### Response: Small fiber neuropathy is inherited in an autosomal dominant pattern, which means one copy of the altered SCN9A gene or SCN10A gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for small fiber neuropathy ? ### Response: These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypermethioninemia ? ### Response: Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hypermethioninemia ? ### Response: Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypermethioninemia ? ### Response: Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypermethioninemia inherited ? ### Response: Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypermethioninemia ? ### Response: These resources address the diagnosis or management of hypermethioninemia: - Baby's First Test - Genetic Testing Registry: Glycine N-methyltransferase deficiency - Genetic Testing Registry: Hepatic methionine adenosyltransferase deficiency - Genetic Tes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chylomicron retention disease ? ### Response: Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) chylomicron retention disease ? ### Response: Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to chylomicron retention disease ? ### Response: Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients. SAR1B gene mutations impair the release of chylomicrons into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: Is chylomicron retention disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for chylomicron retention disease ? ### Response: These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagno " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuromyelitis optica ? ### Response: Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuromyelitis optica ? ### Response: Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neuromyelitis optica ? ### Response: No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that there may be one or more genetic changes that increase susceptibility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neuromyelitis optica ? ### Response: No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that there may be one or more genetic changes that increase susceptibility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neuromyelitis optica ? ### Response: These resources address the diagnosis or management of neuromyelitis optica: - Genetic Testing Registry: Neuromyelitis optica - National Institute of Neurological Disorders and Stroke: Neuromyelitis Optica Information Page - The Transverse Myelitis Assoc " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal tubular dysgenesis ? ### Response: Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal tubular dysgenesis ? ### Response: Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to renal tubular dysgenesis ? ### Response: Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is renal tubular dysgenesis inherited ? ### Response: Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for renal tubular dysgenesis ? ### Response: These resources address the diagnosis or management of renal tubular dysgenesis: - Genetic Testing Registry: Renal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crohn disease ? ### Response: Crohn disease is a complex, chronic disorder that primarily affects the digestive system. This condition typically involves abnormal inflammation of the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Crohn disease ? ### Response: Crohn disease is most common in western Europe and North America, where it affects 100 to 150 in 100,000 people. About one million Americans are currently affected by this disorder. Crohn disease occurs more often in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other ethnic backgrounds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Crohn disease ? ### Response: Crohn disease is related to chromosomes 5 and 10. Variations of the ATG16L1, IRGM, and NOD2 genes increase the risk of developing Crohn disease. The IL23R gene is associated with Crohn disease. A variety of genetic and environmental factors likely play a role in causing Crohn disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is Crohn disease inherited ? ### Response: The inheritance pattern of Crohn disease is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a significant risk factor for the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crohn disease ? ### Response: These resources address the diagnosis or management of Crohn disease: - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Crohn's disease These resources from MedlinePlus offer information about the diagnosis and managem " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) antiphospholipid syndrome ? ### Response: Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by antiphospholipid syndrome ? ### Response: The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to antiphospholipid syndrome ? ### Response: The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibodies in antiphospholipid syndrome attack normal human proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is antiphospholipid syndrome inherited ? ### Response: Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing antiphospholipid syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for antiphospholipid syndrome ? ### Response: These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Cur " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adiposis dolorosa ? ### Response: Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) adiposis dolorosa ? ### Response: Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to adiposis dolorosa ? ### Response: The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified. Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. " "Below is an instruction from Human. Write a response. ### Instruction: Is adiposis dolorosa inherited ? ### Response: Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family. A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for adiposis dolorosa ? ### Response: These resources address the diagnosis or management of adiposis dolorosa: - Genetic Testing Registry: Lipomatosis dolorosa - Merck Manual Consumer Version: Lipomas These resources from MedlinePlus offer information about the diagnosis and management of " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CATSPER1-related nonsyndromic male infertility ? ### Response: CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are abnormally shaped. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CATSPER1-related nonsyndromic male infertility ? ### Response: CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are abnormally shaped. " "Below is an instruction from Human. Write a response. ### Instruction: Is CATSPER1-related nonsyndromic male infertility inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CATSPER1-related nonsyndromic male infertility ? ### Response: These resources address the diagnosis or management of CATSPER1-related nonsyndromic male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: CATSPER-Related Male Infe " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome ? ### Response: Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a decrease in blood platelets (thrombocytopenia), and abnormal neurological responses. " "Below is an instruction from Human. Write a response. ### Instruction: Is Aicardi-Goutieres syndrome inherited ? ### Response: Aicardi-Goutieres syndrome can have different inheritance patterns. In most cases it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aicardi-Goutieres syndrome ? ### Response: These resources address the diagnosis or management of Aicardi-Goutieres syndrome: - Gene Review: Gene Review: Aicardi-Goutieres Syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome 1 - G " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microcephaly-capillary malformation syndrome ? ### Response: Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In people with microcephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microcephaly-capillary malformation syndrome ? ### Response: Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In people with microcephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to microcephaly-capillary malformation syndrome ? ### Response: Microcephaly-capillary malformation syndrome results from mutations in the STAMBP gene. This gene provides instructions for making a protein called STAM binding protein. This protein plays a role in sorting damaged or unneeded proteins so they can be transported from the cell surface to specialized cell compartments that break down (degrade) or recycle them. " "Below is an instruction from Human. Write a response. ### Instruction: Is microcephaly-capillary malformation syndrome inherited ? ### Response: This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for microcephaly-capillary malformation syndrome ? ### Response: These resources address the diagnosis or management of microcephaly-capillary malformation syndrome: - Gene Review: Gene Review: Microcephaly-Capillary Malformation Syndrome - Genetic Testing Registry: Microcephaly-capillary malformation syndrome These " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atopic dermatitis ? ### Response: Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood or does not begin until adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atopic dermatitis ? ### Response: Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood or does not begin until adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to atopic dermatitis ? ### Response: The genetics of atopic dermatitis are not completely understood. Studies suggest that several genes can be involved in development of the condition. The strongest association is with the FLG gene, which is mutated in 20 to 30 percent of people with atopic dermatitis compared with 8 to 10 percent of the general population without atopic dermatitis. " "Below is an instruction from Human. Write a response. ### Instruction: Is atopic dermatitis inherited ? ### Response: Allergic disorders tend to run in families; having a parent with atopic dermatitis, asthma, or hay fever raises the chances a person will develop atopic dermatitis. When associated with FLG gene mutations, atopic dermatitis follows an autosomal dominant inheritance pattern, which means one copy of the altered FLG gene in each cell is sufficient to increase the risk of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for atopic dermatitis ? ### Response: These resources address the diagnosis or management of atopic dermatitis: - American Academy of Dermatology: Atopic Dermatitis: Tips for Managing These resources from MedlinePlus offer information about the diagnosis and management of various health cond " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) renal hypouricemia ? ### Response: Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of uric acid in the blood. Uric acid is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by renal hypouricemia ? ### Response: The prevalence of renal hypouricemia is unknown; at least 150 affected individuals have been described in the scientific literature. This condition is thought to be most prevalent in Asian countries such as Japan and South Korea, although affected individuals have been found in Europe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to renal hypouricemia ? ### Response: Mutations in the SLC22A12 or SLC2A9 gene cause renal hypouricemia. These genes provide instructions for making proteins called urate transporter 1 (URAT1) and glucose transporter 9 (GLUT9), respectively. These proteins are found in the kidneys, specifically in structures called proximal tubules. " "Below is an instruction from Human. Write a response. ### Instruction: Is renal hypouricemia inherited ? ### Response: This condition is typically inherited in an autosomal recessive pattern, which means both copies of the SLC22A12 or SLC2A9 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for renal hypouricemia ? ### Response: These resources address the diagnosis or management of renal hypouricemia: - Genetic Testing Registry: Familial renal hypouricemia - Genetic Testing Registry: Renal hypouricemia 2 - KidsHealth from Nemours: Blood Test: Uric Acid - MedlinePlus Encycloped " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? ### Response: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during periods without food (fasting). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? ### Response: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during periods without food (fasting). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? ### Response: Mutations in the HMGCL gene cause HMG-CoA lyase deficiency. The HMGCL gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in breaking down dietary proteins and fats for energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-hydroxy-3-methylglutaryl-CoA lyase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? ### Response: These resources address the diagnosis or management of HMG-CoA lyase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of hydroxymethylglutaryl-CoA lyase These resources from MedlinePlus offer information about the diagnosis and man " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Poland syndrome ? ### Response: Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Poland syndrome ? ### Response: Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Poland syndrome ? ### Response: The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on each side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Poland syndrome inherited ? ### Response: Most cases of Poland syndrome are sporadic, which means they are not inherited and occur in people with no history of the disorder in their families. Rarely, this condition is passed through generations in families. In these families the condition appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no associated genes have been found. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Poland syndrome ? ### Response: These resources address the diagnosis or management of Poland syndrome: - Children's Medical Center of Dallas - Great Ormond Street Hospital (UK): Treatment Options for Symbrachydactyly - St. Louis Children's Hospital: Chest Wall Deformities These reso " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myopathy with deficiency of iron-sulfur cluster assembly enzyme ? ### Response: Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles used for movement (skeletal muscles). This condition does not usually affect other types of muscle, such as the heart (cardiac) muscle. From early childhood, affected individuals experience extreme fatigue in response to physical activity (exercise intolerance). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myopathy with deficiency of iron-sulfur cluster assembly enzyme ? ### Response: Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles used for movement (skeletal muscles). This condition does not usually affect other types of muscle, such as the heart (cardiac) muscle. From early childhood, affected individuals experience extreme fatigue in response to physical activity (exercise intolerance). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myopathy with deficiency of iron-sulfur cluster assembly enzyme ? ### Response: Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). " "Below is an instruction from Human. Write a response. ### Instruction: Is myopathy with deficiency of iron-sulfur cluster assembly enzyme inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myopathy with deficiency of iron-sulfur cluster assembly enzyme ? ### Response: These resources address the diagnosis or management of myopathy with deficiency of iron-sulfur cluster assembly enzyme: - Gene Review: Gene Review: Myopathy with Deficiency of ISCU - Genetic Testing Registry: Myopathy with lactic acidosis, hereditary - M " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dyskeratosis congenita ? ### Response: Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as ""lacy""; and white patches inside the mouth (oral leukoplakia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dyskeratosis congenita ? ### Response: Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as ""lacy""; and white patches inside the mouth (oral leukoplakia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dyskeratosis congenita ? ### Response: In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres, which are found at the ends of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is dyskeratosis congenita inherited ? ### Response: Dyskeratosis congenita can have different inheritance patterns. When dyskeratosis congenita is caused by DKC1 gene mutations, it is inherited in an X-linked recessive pattern. The DKC1 gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dyskeratosis congenita ? ### Response: These resources address the diagnosis or management of dyskeratosis congenita: - Gene Review: Gene Review: Dyskeratosis Congenita - Genetic Testing Registry: Dyskeratosis congenita - Genetic Testing Registry: Dyskeratosis congenita X-linked - Genetic Te " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hereditary spherocytosis ? ### Response: Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by hereditary spherocytosis ? ### Response: Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hereditary spherocytosis ? ### Response: Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure. " "Below is an instruction from Human. Write a response. ### Instruction: Is hereditary spherocytosis inherited ? ### Response: In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hereditary spherocytosis ? ### Response: These resources address the diagnosis or management of hereditary spherocytosis: - Genetic Testing Registry: Hereditary spherocytosis - Genetic Testing Registry: Spherocytosis type 2 - Genetic Testing Registry: Spherocytosis type 3 - Genetic Testing Reg " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) achondrogenesis ? ### Response: Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) achondrogenesis ? ### Response: Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to achondrogenesis ? ### Response: Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively. The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from mutations in the TRIP11 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is achondrogenesis inherited ? ### Response: Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for achondrogenesis ? ### Response: These resources address the diagnosis or management of achondrogenesis: - Gene Review: Gene Review: Achondrogenesis Type 1B - Genetic Testing Registry: Achondrogenesis type 2 - Genetic Testing Registry: Achondrogenesis, type IA - Genetic Testing Registr " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) rhizomelic chondrodysplasia punctata ? ### Response: Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) rhizomelic chondrodysplasia punctata ? ### Response: Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. " "Below is an instruction from Human. Write a response. ### Instruction: Is rhizomelic chondrodysplasia punctata inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for rhizomelic chondrodysplasia punctata ? ### Response: These resources address the diagnosis or management of rhizomelic chondrodysplasia punctata: - Gene Review: Gene Review: Rhizomelic Chondrodysplasia Punctata Type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 1 - Genetic Testing " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) lactose intolerance ? ### Response: Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down lactose in breast milk or formula. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by lactose intolerance ? ### Response: Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns. Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to lactose intolerance ? ### Response: Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely impaired ability to digest lactose in breast milk or formula. " "Below is an instruction from Human. Write a response. ### Instruction: Is lactose intolerance inherited ? ### Response: The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for lactose intolerance ? ### Response: These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - Medl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spinocerebellar ataxia type 2 ? ### Response: Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include speech and swallowing difficulties, rigidity, tremors, and weakness in the muscles that control eye movement (ophthalmoplegia). " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by spinocerebellar ataxia type 2 ? ### Response: The prevalence of SCA2 is unknown. This condition is estimated to be one of the most common types of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, particularly in the Holgun province, where approximately 40 per 100,000 individuals are affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to spinocerebellar ataxia type 2 ? ### Response: Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. " "Below is an instruction from Human. Write a response. ### Instruction: Is spinocerebellar ataxia type 2 inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA2 do not have a parent with the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spinocerebellar ataxia type 2 ? ### Response: These resources address the diagnosis or management of SCA2: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 2 - Genetic Testing Registry: Spinocerebellar ataxia 2 These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) beta-ureidopropionase deficiency ? ### Response: Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by beta-ureidopropionase deficiency ? ### Response: The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to beta-ureidopropionase deficiency ? ### Response: Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is beta-ureidopropionase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for beta-ureidopropionase deficiency ? ### Response: These resources address the diagnosis or management of beta-ureidopropionase deficiency: - Genetic Testing Registry: Deficiency of beta-ureidopropionase These resources from MedlinePlus offer information about the diagnosis and management of various heal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microvillus inclusion disease ? ### Response: Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) microvillus inclusion disease ? ### Response: Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to microvillus inclusion disease ? ### Response: Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling. " "Below is an instruction from Human. Write a response. ### Instruction: Is microvillus inclusion disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for microvillus inclusion disease ? ### Response: These resources address the diagnosis or management of microvillus inclusion disease: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Congenital microvillous atrophy - Great Ormond Street Hospital for Children (UK): Intestinal Assessment " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weaver syndrome ? ### Response: Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weaver syndrome ? ### Response: Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Weaver syndrome ? ### Response: Weaver syndrome is usually caused by mutations in the EZH2 gene. The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. " "Below is an instruction from Human. Write a response. ### Instruction: Is Weaver syndrome inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Weaver syndrome ? ### Response: These resources address the diagnosis or management of Weaver syndrome: - Genetic Testing Registry: Weaver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pfeiffer syndrome ? ### Response: Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pfeiffer syndrome ? ### Response: Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pfeiffer syndrome ? ### Response: Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pfeiffer syndrome ? ### Response: Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pfeiffer syndrome ? ### Response: These resources address the diagnosis or management of Pfeiffer syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Pfeiffer syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encycl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) beta-ketothiolase deficiency ? ### Response: Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) beta-ketothiolase deficiency ? ### Response: Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to beta-ketothiolase deficiency ? ### Response: Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. " "Below is an instruction from Human. Write a response. ### Instruction: Is beta-ketothiolase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for beta-ketothiolase deficiency ? ### Response: These resources address the diagnosis or management of beta-ketothiolase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase These resources from MedlinePlus offer information about the diagnosis and ma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial thoracic aortic aneurysm and dissection ? ### Response: Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by familial thoracic aortic aneurysm and dissection ? ### Response: Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial thoracic aortic aneurysm and dissection ? ### Response: Mutations in any of several genes are associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. Mutations in several other genes account for smaller percentages of cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial thoracic aortic aneurysm and dissection inherited ? ### Response: Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with the condition; this situation is known as reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial thoracic aortic aneurysm and dissection ? ### Response: These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurys " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial lipoprotein lipase deficiency ? ### Response: Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial lipoprotein lipase deficiency ? ### Response: Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial lipoprotein lipase deficiency ? ### Response: Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is familial lipoprotein lipase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial lipoprotein lipase deficiency ? ### Response: These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuropathy, ataxia, and retinitis pigmentosa ? ### Response: Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) neuropathy, ataxia, and retinitis pigmentosa ? ### Response: Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ? ### Response: NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is neuropathy, ataxia, and retinitis pigmentosa inherited ? ### Response: This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for neuropathy, ataxia, and retinitis pigmentosa ? ### Response: These resources address the diagnosis or management of NARP: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Neuropathy ataxia retin " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial encephalopathy with neuroserpin inclusion bodies ? ### Response: Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) familial encephalopathy with neuroserpin inclusion bodies ? ### Response: Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial encephalopathy with neuroserpin inclusion bodies ? ### Response: FENIB results from mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in nerve cells (neurons). Neuroserpin plays a role in the development and function of the nervous system. This protein helps control the growth of neurons and their connections with one another, which suggests that it may be important for learning and memory. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to familial encephalopathy with neuroserpin inclusion bodies ? ### Response: FENIB results from mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in nerve cells (neurons). Neuroserpin plays a role in the development and function of the nervous system. This protein helps control the growth of neurons and their connections with one another, which suggests that it may be important for learning and memory. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for familial encephalopathy with neuroserpin inclusion bodies ? ### Response: These resources address the diagnosis or management of FENIB: - Genetic Testing Registry: Familial encephalopathy with neuroserpin inclusion bodies - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Seizures These resources from MedlinePl " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dentinogenesis imperfecta ? ### Response: Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dentinogenesis imperfecta ? ### Response: Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dentinogenesis imperfecta ? ### Response: Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dentinogenesis imperfecta ? ### Response: Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dentinogenesis imperfecta ? ### Response: These resources address the diagnosis or management of dentinogenesis imperfecta: - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type II - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type III - MedlinePlus Encyclopedi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) vitiligo ? ### Response: Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) vitiligo ? ### Response: Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to vitiligo ? ### Response: Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to vitiligo ? ### Response: Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for vitiligo ? ### Response: These resources address the diagnosis or management of vitiligo: - Genetic Testing Registry: Vitiligo - Vitiligo Support International: Vitiligo Treatments and Research These resources from MedlinePlus offer information about the diagnosis and managemen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) dihydropyrimidine dehydrogenase deficiency ? ### Response: Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others. In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder becomes apparent in infancy. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by dihydropyrimidine dehydrogenase deficiency ? ### Response: Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset neurological symptoms, is a rare disorder. Its prevalence is unknown. However, between 2 and 8 percent of the general population may be vulnerable to toxic reactions to fluoropyrimidine drugs caused by otherwise asymptomatic dihydropyrimidine dehydrogenase deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to dihydropyrimidine dehydrogenase deficiency ? ### Response: Dihydropyrimidine dehydrogenase deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are pyrimidines, which are one type of nucleotide. " "Below is an instruction from Human. Write a response. ### Instruction: Is dihydropyrimidine dehydrogenase deficiency inherited ? ### Response: Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with two mutated copies of the DPYD gene in each cell may exhibit the signs and symptoms of this disorder, or they may be generally asymptomatic but at risk for toxic reactions to fluoropyrimidine drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for dihydropyrimidine dehydrogenase deficiency ? ### Response: These resources address the diagnosis or management of dihydropyrimidine dehydrogenase deficiency: - Genetic Testing Registry: Dihydropyrimidine dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and managemen " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frasier syndrome ? ### Response: Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frasier syndrome ? ### Response: Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Frasier syndrome ? ### Response: Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Frasier syndrome ? ### Response: Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Frasier syndrome ? ### Response: These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from Med " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperlysinemia ? ### Response: Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hyperlysinemia ? ### Response: Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hyperlysinemia ? ### Response: Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. " "Below is an instruction from Human. Write a response. ### Instruction: Is hyperlysinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hyperlysinemia ? ### Response: These resources address the diagnosis or management of hyperlysinemia: - Genetic Testing Registry: Hyperlysinemia - Genetic Testing Registry: Saccharopinuria These resources from MedlinePlus offer information about the diagnosis and management of variou " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zellweger spectrum disorder ? ### Response: Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zellweger spectrum disorder ? ### Response: Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Zellweger spectrum disorder ? ### Response: Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Zellweger spectrum disorder inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Zellweger spectrum disorder ? ### Response: These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Swyer syndrome ? ### Response: Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Swyer syndrome ? ### Response: Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Swyer syndrome ? ### Response: Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making the sex-determining region Y protein. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Swyer syndrome inherited ? ### Response: Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Swyer syndrome ? ### Response: These resources address the diagnosis or management of Swyer syndrome: - Gene Review: Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis - Genetic Testing Registry: Pure gonadal dysgenesis 46,XY - MedlinePlus Encyclopedi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 11 ? ### Response: Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) spastic paraplegia type 11 ? ### Response: Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. " "Below is an instruction from Human. Write a response. ### Instruction: Is spastic paraplegia type 11 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for spastic paraplegia type 11 ? ### Response: These resources address the diagnosis or management of spastic paraplegia type 11: - Gene Review: Gene Review: Spastic Paraplegia 11 - Genetic Testing Registry: Spastic paraplegia 11, autosomal recessive - Spastic Paraplegia Foundation, Inc.: Treatments " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) paroxysmal extreme pain disorder ? ### Response: Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) paroxysmal extreme pain disorder ? ### Response: Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to paroxysmal extreme pain disorder ? ### Response: Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to paroxysmal extreme pain disorder ? ### Response: Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for paroxysmal extreme pain disorder ? ### Response: These resources address the diagnosis or management of paroxysmal extreme pain disorder: - Genetic Testing Registry: Paroxysmal extreme pain disorder These resources from MedlinePlus offer information about the diagnosis and management of various health " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multicentric osteolysis, nodulosis, and arthropathy ? ### Response: Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) multicentric osteolysis, nodulosis, and arthropathy ? ### Response: Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ? ### Response: MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is multicentric osteolysis, nodulosis, and arthropathy inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for multicentric osteolysis, nodulosis, and arthropathy ? ### Response: These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) histidinemia ? ### Response: Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) histidinemia ? ### Response: Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to histidinemia ? ### Response: Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. " "Below is an instruction from Human. Write a response. ### Instruction: Is histidinemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for histidinemia ? ### Response: These resources address the diagnosis or management of histidinemia: - Genetic Testing Registry: Histidinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myotonia congenita ? ### Response: Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) myotonia congenita ? ### Response: Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to myotonia congenita ? ### Response: Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. " "Below is an instruction from Human. Write a response. ### Instruction: Is myotonia congenita inherited ? ### Response: The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for myotonia congenita ? ### Response: These resources address the diagnosis or management of myotonia congenita: - Gene Review: Gene Review: Myotonia Congenita - Genetic Testing Registry: Congenital myotonia, autosomal dominant form - Genetic Testing Registry: Congenital myotonia, autosomal " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutaric acidemia type II ? ### Response: Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) glutaric acidemia type II ? ### Response: Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to glutaric acidemia type II ? ### Response: Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. " "Below is an instruction from Human. Write a response. ### Instruction: Is glutaric acidemia type II inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for glutaric acidemia type II ? ### Response: These resources address the diagnosis or management of glutaric acidemia type II: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atelosteogenesis type 2 ? ### Response: Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) atelosteogenesis type 2 ? ### Response: Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to atelosteogenesis type 2 ? ### Response: Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. " "Below is an instruction from Human. Write a response. ### Instruction: Is atelosteogenesis type 2 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for atelosteogenesis type 2 ? ### Response: These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosi " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mevalonate kinase deficiency ? ### Response: Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) mevalonate kinase deficiency ? ### Response: Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to mevalonate kinase deficiency ? ### Response: Mutations in the MVK gene cause mevalonate kinase deficiency. The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme is involved in the production of cholesterol, which is later converted into steroid hormones and bile acids. " "Below is an instruction from Human. Write a response. ### Instruction: Is mevalonate kinase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for mevalonate kinase deficiency ? ### Response: These resources address the diagnosis or management of mevalonate kinase deficiency: - Genetic Testing Registry: Hyperimmunoglobulin D with periodic fever - Genetic Testing Registry: Mevalonic aciduria These resources from MedlinePlus offer information " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tarsal-carpal coalition syndrome ? ### Response: Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) tarsal-carpal coalition syndrome ? ### Response: Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tarsal-carpal coalition syndrome ? ### Response: Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to tarsal-carpal coalition syndrome ? ### Response: Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for tarsal-carpal coalition syndrome ? ### Response: These resources address the diagnosis or management of tarsal-carpal coalition syndrome: - Foot Health Facts: Tarsal Coalition - Genetic Testing Registry: Tarsal carpal coalition syndrome These resources from MedlinePlus offer information about the diag " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) persistent Mllerian duct syndrome ? ### Response: Persistent Mllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Mllerian duct during development of the fetus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) persistent Mllerian duct syndrome ? ### Response: Persistent Mllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Mllerian duct during development of the fetus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to persistent Mllerian duct syndrome ? ### Response: Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2. " "Below is an instruction from Human. Write a response. ### Instruction: Is persistent Mllerian duct syndrome inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for persistent Mllerian duct syndrome ? ### Response: These resources address the diagnosis or management of persistent Mllerian duct syndrome: - Genetic Testing Registry: Persistent Mullerian duct syndrome - MedlinePlus Encyclopedia: Undescended testicle repair These resources from MedlinePlus offer infor " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) deoxyguanosine kinase deficiency ? ### Response: Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) deoxyguanosine kinase deficiency ? ### Response: Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to deoxyguanosine kinase deficiency ? ### Response: The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. " "Below is an instruction from Human. Write a response. ### Instruction: Is deoxyguanosine kinase deficiency inherited ? ### Response: Deoxyguanosine kinase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In most cases, the parents of an individual with this condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for deoxyguanosine kinase deficiency ? ### Response: These resources address the diagnosis or management of deoxyguanosine kinase deficiency: - Gene Review: Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Genetic Testing Registry: Mitochondrial DNA-depletion syndrome 3 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 17 alpha-hydroxylase/17,20-lyase deficiency ? ### Response: 17 alpha()-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 17 alpha-hydroxylase/17,20-lyase deficiency ? ### Response: 17 alpha()-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. " "Below is an instruction from Human. Write a response. ### Instruction: Is 17 alpha-hydroxylase/17,20-lyase deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 17 alpha-hydroxylase/17,20-lyase deficiency ? ### Response: These resources address the diagnosis or management of 17 alpha-hydroxylase/17,20-lyase deficiency: - Genetic Testing Registry: Deficiency of steroid 17-alpha-monooxygenase These resources from MedlinePlus offer information about the diagnosis and manage " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aceruloplasminemia ? ### Response: Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. People with aceruloplasminemia develop a variety of movement problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) aceruloplasminemia ? ### Response: Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. People with aceruloplasminemia develop a variety of movement problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to aceruloplasminemia ? ### Response: Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen. " "Below is an instruction from Human. Write a response. ### Instruction: Is aceruloplasminemia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for aceruloplasminemia ? ### Response: These resources address the diagnosis or management of aceruloplasminemia: - Gene Review: Gene Review: Aceruloplasminemia - Genetic Testing Registry: Deficiency of ferroxidase These resources from MedlinePlus offer information about the diagnosis and ma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) complement factor I deficiency ? ### Response: Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) complement factor I deficiency ? ### Response: Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to complement factor I deficiency ? ### Response: Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is complement factor I deficiency inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for complement factor I deficiency ? ### Response: These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dowling-Degos disease ? ### Response: Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dowling-Degos disease ? ### Response: Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Dowling-Degos disease ? ### Response: Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Dowling-Degos disease ? ### Response: Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dowling-Degos disease ? ### Response: These resources address the diagnosis or management of Dowling-Degos disease: - Cleveland Clinic: Skin Care Concerns - Genetic Testing Registry: Reticulate acropigmentation of Kitamura These resources from MedlinePlus offer information about the diagnos " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autoimmune polyglandular syndrome, type 1 ? ### Response: Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) autoimmune polyglandular syndrome, type 1 ? ### Response: Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to autoimmune polyglandular syndrome, type 1 ? ### Response: Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. " "Below is an instruction from Human. Write a response. ### Instruction: Is autoimmune polyglandular syndrome, type 1 inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for autoimmune polyglandular syndrome, type 1 ? ### Response: These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1: - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renpenning syndrome ? ### Response: Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renpenning syndrome ? ### Response: Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Renpenning syndrome ? ### Response: Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Renpenning syndrome inherited ? ### Response: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Renpenning syndrome ? ### Response: These resources address the diagnosis or management of Renpenning syndrome: - Genetic Testing Registry: Renpenning syndrome 1 - Greenwood Genetics Center: X-Linked Intellectual Disability - Kennedy Krieger Institute: Center for Genetic Disorders of Cogni " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asperger syndrome ? ### Response: Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or ""high-functioning,"" end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by Asperger syndrome ? ### Response: The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females. Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and the prevalence is often perceived to be rising as more people are recognized to have features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Asperger syndrome ? ### Response: While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Asperger syndrome ? ### Response: While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Asperger syndrome ? ### Response: These resources address the diagnosis or management of Asperger syndrome: - Genetic Testing Registry: Asperger syndrome 1 - Genetic Testing Registry: Asperger syndrome 2 - Genetic Testing Registry: Asperger syndrome 3 - Genetic Testing Registry: Asperge " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retroperitoneal fibrosis ? ### Response: Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) retroperitoneal fibrosis ? ### Response: Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to retroperitoneal fibrosis ? ### Response: No genes associated with retroperitoneal fibrosis have been identified. Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development of retroperitoneal fibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: Is retroperitoneal fibrosis inherited ? ### Response: Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for retroperitoneal fibrosis ? ### Response: These resources address the diagnosis or management of retroperitoneal fibrosis: - Johns Hopkins Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Ther " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Legg-Calv-Perthes disease ? ### Response: Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Legg-Calv-Perthes disease ? ### Response: Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Legg-Calv-Perthes disease ? ### Response: Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. " "Below is an instruction from Human. Write a response. ### Instruction: Is Legg-Calv-Perthes disease inherited ? ### Response: When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Legg-Calv-Perthes disease ? ### Response: These resources address the diagnosis or management of Legg-Calv-Perthes disease: - National Osteonecrosis Foundation - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health c " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beckwith-Wiedemann syndrome ? ### Response: Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beckwith-Wiedemann syndrome ? ### Response: Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Beckwith-Wiedemann syndrome ? ### Response: The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or ""turned on,"" in cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Beckwith-Wiedemann syndrome inherited ? ### Response: In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Beckwith-Wiedemann syndrome ? ### Response: These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia with oculomotor apraxia ? ### Response: Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ataxia with oculomotor apraxia ? ### Response: Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to ataxia with oculomotor apraxia ? ### Response: Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. These genes provide instructions for making proteins that are involved in DNA repair. Mutations in the APTX or SETX gene decrease the amount of functional protein that is available to repair damaged DNA, which leads to the accumulation of breaks in DNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is ataxia with oculomotor apraxia inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for ataxia with oculomotor apraxia ? ### Response: These resources address the diagnosis or management of ataxia with oculomotor apraxia: - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 1 - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 2 - Genetic Testing Registry: Adult o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Costello syndrome ? ### Response: Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Costello syndrome ? ### Response: Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Costello syndrome ? ### Response: Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). " "Below is an instruction from Human. Write a response. ### Instruction: Is Costello syndrome inherited ? ### Response: Costello syndrome is considered to be an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Costello syndrome ? ### Response: These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello syndrome These resources from MedlinePlus offer information about the diagnosis and management o " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) craniofacial-deafness-hand syndrome ? ### Response: Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) craniofacial-deafness-hand syndrome ? ### Response: Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to craniofacial-deafness-hand syndrome ? ### Response: Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to craniofacial-deafness-hand syndrome ? ### Response: Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help control the activity of particular genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for craniofacial-deafness-hand syndrome ? ### Response: These resources address the diagnosis or management of craniofacial-deafness-hand syndrome: - Genetic Testing Registry: Craniofacial deafness hand syndrome - Johns Hopkins Children's Center: Hearing Loss These resources from MedlinePlus offer informatio " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laing distal myopathy ? ### Response: Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laing distal myopathy ? ### Response: Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Laing distal myopathy ? ### Response: Mutations in the MYH7 gene cause Laing distal myopathy. The MYH7 gene provides instructions for making a protein that is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. " "Below is an instruction from Human. Write a response. ### Instruction: Is Laing distal myopathy inherited ? ### Response: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Laing distal myopathy ? ### Response: These resources address the diagnosis or management of Laing distal myopathy: - Gene Review: Gene Review: Laing Distal Myopathy - Genetic Testing Registry: Myopathy, distal, 1 These resources from MedlinePlus offer information about the diagnosis and ma " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) biotin-thiamine-responsive basal ganglia disease ? ### Response: Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) biotin-thiamine-responsive basal ganglia disease ? ### Response: Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to biotin-thiamine-responsive basal ganglia disease ? ### Response: Biotin-thiamine-responsive basal ganglia disease is caused by mutations in the SLC19A3 gene. This gene provides instructions for making a protein called a thiamine transporter, which moves thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet and is necessary for proper functioning of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: Is biotin-thiamine-responsive basal ganglia disease inherited ? ### Response: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for biotin-thiamine-responsive basal ganglia disease ? ### Response: These resources address the diagnosis or management of biotin-thiamine-responsive basal ganglia disease: - Gene Review: Gene Review: Biotin-Thiamine-Responsive Basal Ganglia Disease These resources from MedlinePlus offer information about the diagnosis a " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pearson marrow-pancreas syndrome ? ### Response: Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pearson marrow-pancreas syndrome ? ### Response: Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pearson marrow-pancreas syndrome ? ### Response: Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Pearson marrow-pancreas syndrome ? ### Response: Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pearson marrow-pancreas syndrome ? ### Response: These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson syndrome These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) hypohidrotic ectodermal dysplasia ? ### Response: Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to hypohidrotic ectodermal dysplasia ? ### Response: Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. " "Below is an instruction from Human. Write a response. ### Instruction: Is hypohidrotic ectodermal dysplasia inherited ? ### Response: Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for hypohidrotic ectodermal dysplasia ? ### Response: These resources address the diagnosis or management of hypohidrotic ectodermal dysplasia: - Gene Review: Gene Review: Hypohidrotic Ectodermal Dysplasia - Genetic Testing Registry: Autosomal dominant hypohidrotic ectodermal dysplasia - Genetic Testing Reg " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) achondroplasia ? ### Response: Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means ""without cartilage formation."" Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) achondroplasia ? ### Response: Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means ""without cartilage formation."" Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to achondroplasia ? ### Response: Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. " "Below is an instruction from Human. Write a response. ### Instruction: Is achondroplasia inherited ? ### Response: Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for achondroplasia ? ### Response: These resources address the diagnosis or management of achondroplasia: - Gene Review: Gene Review: Achondroplasia - GeneFacts: Achondroplasia: Diagnosis - GeneFacts: Achondroplasia: Management - Genetic Testing Registry: Achondroplasia - MedlinePlus En " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) head and neck squamous cell carcinoma ? ### Response: Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. " "Below is an instruction from Human. Write a response. ### Instruction: How many people are affected by head and neck squamous cell carcinoma ? ### Response: HNSCC is the seventh most common cancer worldwide. Approximately 600,000 new cases are diagnosed each year, including about 50,000 in the United States. HNSCC occurs most often in men in their 50s or 60s, although the incidence among younger individuals is increasing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to head and neck squamous cell carcinoma ? ### Response: HNSCC is caused by a variety of factors that can alter the DNA in cells. The strongest risk factors for developing this form of cancer are tobacco use (including smoking or using chewing tobacco) and heavy alcohol consumption. In addition, studies have shown that infection with certain strains of human papillomavirus (HPV) is linked to the development of HNSCC. " "Below is an instruction from Human. Write a response. ### Instruction: Is head and neck squamous cell carcinoma inherited ? ### Response: HNSCC is generally not inherited; it typically arises from mutations in the body's cells that occur during an individual's lifetime. This type of alteration is called a somatic mutation. Rarely, HNSCC is found in several members of a family. These families have inherited disorders that increase the risk of multiple types of cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for head and neck squamous cell carcinoma ? ### Response: These resources address the diagnosis or management of head and neck squamous cell carcinoma: - Cancer.Net: Head and Neck Cancer: Treatment Options - National Cancer Institute: Head and Neck Cancers These resources from MedlinePlus offer information abo " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lowe syndrome ? ### Response: Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lowe syndrome ? ### Response: Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the genetic changes related to Lowe syndrome ? ### Response: Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lowe syndrome inherited ? ### Response: This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lowe syndrome ? ### Response: These resources address the diagnosis or management of Lowe syndrome: - Gene Review: Gene Review: Lowe Syndrome - Genetic Testing Registry: Lowe syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Fanconi Syndrome Thes " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zika virus infection ? ### Response: Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected male partner. Cases of Zika virus transmission via blood transfusions have also been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Zika virus infection ? ### Response: How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ghosal hematodiaphyseal dysplasia syndrome ? ### Response: What are the signs and symptoms of Ghosal hematodiaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ghosal hematodiaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diffuse idiopathic skeletal hyperostosis ? ### Response: Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper back; however, other symptoms may also develop when bone spurs press on nearby organs or parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diffuse idiopathic skeletal hyperostosis ? ### Response: What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as diabetes mellitus, acromegaly, or certain inherited connective tissue disorders) may lead to DISH. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diffuse idiopathic skeletal hyperostosis ? ### Response: How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 1q44 microdeletion syndrome ? ### Response: What are the signs and symptoms of 1q44 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q44 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypertrichosis lanuginosa congenita ? ### Response: Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertrichosis lanuginosa congenita ? ### Response: What are the signs and symptoms of Hypertrichosis lanuginosa congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital disorder of glycosylation type I/IIX ? ### Response: What are the signs and symptoms of Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute febrile neutrophilic dermatosis ? ### Response: Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acute febrile neutrophilic dermatosis ? ### Response: What are the signs and symptoms of Acute febrile neutrophilic dermatosis? The most obvious signs of acute febrile neutrophilic dermatosis are distinctive skin lesions that usually develop according to a specific pattern. Typically, a series of small red bumps appear suddenly on the back, neck, arms and face, often after a fever or upper respiratory infection. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Acute febrile neutrophilic dermatosis ? ### Response: What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract in " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acute febrile neutrophilic dermatosis ? ### Response: How might acute febrile neutrophilic dermatosis be treated? Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Q fever ? ### Response: Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta type II ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia corner fracture type ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 5 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Danon disease ? ### Response: Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Danon disease ? ### Response: What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Danon disease ? ### Response: What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Danon disease ? ### Response: What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Danon disease ? ### Response: Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Danon disease ? ### Response: How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Onychodystrophy-anonychia ? ### Response: What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hermansky Pudlak syndrome 2 ? ### Response: What are the signs and symptoms of Hermansky Pudlak syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky Pudlak syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehlers-Danlos syndrome ? ### Response: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome ? ### Response: What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome inherited ? ### Response: Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ehlers-Danlos syndrome ? ### Response: How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagnosis of vascular type, arthrochalasia type, and dermatosparaxis type. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome ? ### Response: How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic kidney disease ? ### Response: Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic kidney disease ? ### Response: What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune autonomic ganglionopathy ? ### Response: Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Autoimmune autonomic ganglionopathy ? ### Response: What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Autoimmune autonomic ganglionopathy ? ### Response: How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Priapism ? ### Response: What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neutropenia lethal congenital with eosinophilia ? ### Response: What are the signs and symptoms of Neutropenia lethal congenital with eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia lethal congenital with eosinophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscular dystrophy ? ### Response: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscular dystrophy ? ### Response: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thyroglossal tract cyst ? ### Response: Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thyroglossal tract cyst ? ### Response: How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and increase the chance for regrowth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? ### Response: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? ### Response: What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoporosis-pseudoglioma syndrome ? ### Response: What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ataxia - hypogonadism - choroidal dystrophy ? ### Response: What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mutiple parosteal osteochondromatous proliferations ? ### Response: What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lesch Nyhan syndrome ? ### Response: Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lesch Nyhan syndrome ? ### Response: What are the signs and symptoms of Lesch Nyhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lesch Nyhan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lesch Nyhan syndrome inherited ? ### Response: How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have one X and one Y chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Focal facial dermal dysplasia ? ### Response: What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bilateral perisylvian polymicrogyria ? ### Response: Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bilateral perisylvian polymicrogyria ? ### Response: What causes bilateral perisylvian polymicrogyria? The exact underlying cause of bilateral perisylvian polymicrogyria (BPP) is unknown. The signs and symptoms associated with the condition are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bilateral perisylvian polymicrogyria inherited ? ### Response: Is bilateral perisylvian polymicrogyria inherited? In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected by BPP. These cases may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Bilateral perisylvian polymicrogyria ? ### Response: Is genetic testing available for bilateral perisylvian polymicrogyria? Genetic testing is not available for bilateral perisylvian polymicrogyria because the underlying genetic cause is unknown. How is bilateral perisylvian polymicrogyria diagnosed? A diagno " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bilateral perisylvian polymicrogyria ? ### Response: How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sarcosinemia ? ### Response: What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rheumatic Fever ? ### Response: Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rheumatic Fever ? ### Response: What are the signs and symptoms of Rheumatic Fever? Rheumatic fever is primarily diagnosed in children between the ages of 6 and 16 and can affect many different systems of the body, including the heart, joints, nervous system and/or skin. The condition usually develops approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Rheumatic Fever ? ### Response: What causes rheumatic fever? Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever. " "Below is an instruction from Human. Write a response. ### Instruction: Is Rheumatic Fever inherited ? ### Response: Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rheumatic Fever ? ### Response: How might rheumatic fever be treated? Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcus bacterial infection and anti-inflammatory medications such as aspirin or corticosteroids. Because people with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, low dose antibiotics are often continued over a long period of time to prevent recurrence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epilepsy juvenile absence ? ### Response: What are the signs and symptoms of Epilepsy juvenile absence? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy juvenile absence. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 5, Dopa-responsive type ? ### Response: What are the signs and symptoms of Dystonia 5, Dopa-responsive type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 5, Dopa-responsive type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thin basement membrane nephropathy ? ### Response: What are the signs and symptoms of Thin basement membrane nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Thin basement membrane nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lung agenesis ? ### Response: What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 47 XXX syndrome ? ### Response: 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 47 XXX syndrome ? ### Response: What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. " "Below is an instruction from Human. Write a response. ### Instruction: Is 47 XXX syndrome inherited ? ### Response: Is 47 XXX syndrome inherited? Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose 47 XXX syndrome ? ### Response: How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 47 XXX syndrome ? ### Response: How might 47 XXX syndrome be treated? There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duodenal ulcer due to antral G-cell hyperfunction ? ### Response: What are the signs and symptoms of Duodenal ulcer due to antral G-cell hyperfunction? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal ulcer due to antral G-cell hyperfunction. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short rib-polydactyly syndrome type 4 ? ### Response: What are the signs and symptoms of Short rib-polydactyly syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudohypoparathyroidism type 2 ? ### Response: What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ? ### Response: Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ? ### Response: What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpha-thalassemia ? ### Response: Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-thalassemia ? ### Response: What are the signs and symptoms of Alpha-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alpha-thalassemia inherited ? ### Response: How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alpha-thalassemia ? ### Response: How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin. Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermatoleukodystrophy ? ### Response: What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic thrombocytopenic purpura ? ### Response: Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic thrombocytopenic purpura ? ### Response: What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Roifman syndrome ? ### Response: What are the signs and symptoms of Roifman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roifman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pantothenate kinase-associated neurodegeneration ? ### Response: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pantothenate kinase-associated neurodegeneration ? ### Response: What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pantothenate kinase-associated neurodegeneration ? ### Response: How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glucose transporter type 1 deficiency syndrome ? ### Response: Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glucose transporter type 1 deficiency syndrome ? ### Response: What are the signs and symptoms of Glucose transporter type 1 deficiency syndrome? The most common form of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome), called the classic type, may be characterized by: Recurrent seizures (epilepsy) beginning in the first months of life Microcephaly (unusually small head size) that develops after birth Developmental delay Intellectual disability Speech and language impairment Movement abnormalities (i. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glucose transporter type 1 deficiency syndrome ? ### Response: What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. " "Below is an instruction from Human. Write a response. ### Instruction: Is Glucose transporter type 1 deficiency syndrome inherited ? ### Response: Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Glucose transporter type 1 deficiency syndrome ? ### Response: How is glucose transporter type 1 deficiency syndrome diagnosed? A diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glucose transporter type 1 deficiency syndrome ? ### Response: How might glucose transporter type 1 deficiency syndrome be treated? There is currently no cure for glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome); however, a special diet (called a ketogenic diet) may help control symptoms in some affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal tubular acidosis, distal, type 3 ? ### Response: What are the signs and symptoms of Renal tubular acidosis, distal, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kniest like dysplasia lethal ? ### Response: What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Yemenite deaf-blind hypopigmentation syndrome ? ### Response: What are the signs and symptoms of Yemenite deaf-blind hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yemenite deaf-blind hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 15q13.3 microdeletion syndrome ? ### Response: What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose 15q13.3 microdeletion syndrome ? ### Response: Is genetic testing available for 15q13.3 microdeletion syndrome? Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aromatase excess syndrome ? ### Response: What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eales disease ? ### Response: Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Eales disease ? ### Response: How might Eales disease be treated? Depending on the disease stage, treatment may involve corticosteroids (systemic or periocular) and/or immunosuppressants (azathioprine, cyclosporine). Anti-tubercular therapy has been recommended by some authors, however this treatment remains controversial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cleidocranial dysplasia ? ### Response: Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleidocranial dysplasia ? ### Response: What are the signs and symptoms of Cleidocranial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cleidocranial dysplasia ? ### Response: What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a ""master switch,"" regulating a number of other genes involved in the development of cells that build bones (osteoblasts). " "Below is an instruction from Human. Write a response. ### Instruction: Is Cleidocranial dysplasia inherited ? ### Response: How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cleidocranial dysplasia ? ### Response: What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Apocrine carcinoma ? ### Response: Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body. The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly increases in size. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked hypophosphatemia ? ### Response: X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked hypophosphatemia ? ### Response: What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. " "Below is an instruction from Human. Write a response. ### Instruction: What causes X-linked hypophosphatemia ? ### Response: What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone that regulates phosphate reabsorption in the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked hypophosphatemia inherited ? ### Response: How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose X-linked hypophosphatemia ? ### Response: How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes for these symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked hypophosphatemia ? ### Response: How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ambras syndrome ? ### Response: Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ambras syndrome ? ### Response: What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachyolmia ? ### Response: What are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucolipidosis type 4 ? ### Response: Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucolipidosis type 4 ? ### Response: What are the signs and symptoms of Mucolipidosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonic dystrophy ? ### Response: Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myotonic dystrophy ? ### Response: What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; cataracts; and cardiac conduction defects (irregular electrical control of the heartbeat). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Myotonic dystrophy ? ### Response: What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myotonic dystrophy ? ### Response: What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune pancreatitis ? ### Response: Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypomagnesemia primary ? ### Response: What are the signs and symptoms of Hypomagnesemia primary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia primary. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia autosomal recessive 3 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bartter syndrome ? ### Response: Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bartter syndrome ? ### Response: What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bartter syndrome ? ### Response: What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). " "Below is an instruction from Human. Write a response. ### Instruction: Is Bartter syndrome inherited ? ### Response: How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typically do not have signs or symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Bartter syndrome ? ### Response: How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bartter syndrome ? ### Response: How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassium-sparing diuretics. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mevalonic aciduria ? ### Response: Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mevalonic aciduria ? ### Response: What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Retinochoroidal coloboma ? ### Response: Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gordon syndrome ? ### Response: Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gordon syndrome ? ### Response: What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gordon syndrome inherited ? ### Response: How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Retinal vasculopathy with cerebral leukodystrophy ? ### Response: Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinal vasculopathy with cerebral leukodystrophy ? ### Response: What are the signs and symptoms of Retinal vasculopathy with cerebral leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal vasculopathy with cerebral leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vici syndrome ? ### Response: Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vici syndrome ? ### Response: What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nephrotic syndrome ocular anomalies ? ### Response: What are the signs and symptoms of Nephrotic syndrome ocular anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome ocular anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achard syndrome ? ### Response: What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic fatigue syndrome ? ### Response: Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities. It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic fatigue syndrome ? ### Response: How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic fatigue syndrome ? ### Response: How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency ? ### Response: What are the signs and symptoms of 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Choroideremia ? ### Response: Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Choroideremia ? ### Response: What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe congenital neutropenia autosomal dominant ? ### Response: What are the signs and symptoms of Severe congenital neutropenia autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dystonia 8 ? ### Response: Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 8 ? ### Response: What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dystonia 8 ? ### Response: Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thrombotic thrombocytopenic purpura, congenital ? ### Response: Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ? ### Response: What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gamma-cystathionase deficiency ? ### Response: What are the signs and symptoms of Gamma-cystathionase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Gamma-cystathionase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metachondromatosis ? ### Response: Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metachondromatosis ? ### Response: What are the signs and symptoms of Metachondromatosis? Metachondromatosis (MC) is characterized by the presence of both multiple enchondromas and osteochondromas. The features of the condition generally become apparent in the first decade of life. Enchondromas are benign (noncancerous) tumors that appear on the inside of the bone. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ewing's family of tumors ? ### Response: What causes Askins tumor? In 80% to 90% of Askins tumors, a part of chromosome 11 and chromosome 22 are translocated. 'Translocation' means that the chromosomes have exchanged material. This exchange of material interrupts the cell's ability to grow and divide normally. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Febrile Ulceronecrotic Mucha-Habermann disease ? ### Response: What causes febrile ulceronecrotic Mucha-Habermann disease? The cause of FUMHD is not known (idiopathic). A hypersensitivity to an infectious agent is suggested to be the main cause. Single cases of people with FUMHD and Epstein-Barr virus infection, adenovirus, or cytomegalovirus have been reported, but there has been no consistent finding so far. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ? ### Response: How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment approach may vary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial mixed cryoglobulinemia ? ### Response: Familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. These proteins clump together into a ""gel-like"" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial mixed cryoglobulinemia ? ### Response: What are the signs and symptoms of Familial mixed cryoglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial mixed cryoglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multicentric Castleman Disease ? ### Response: Multicentric Castleman disease (MCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is ""systemic"" and affects multiple sets of lymph nodes and other tissues throughout the body (as opposed to unicentric Castleman disease which has more ""localized"" effects). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multicentric Castleman Disease ? ### Response: What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multicentric Castleman Disease ? ### Response: What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multicentric Castleman Disease ? ### Response: How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible t " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism stiff joint ocular abnormalities ? ### Response: What are the signs and symptoms of Dwarfism stiff joint ocular abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism stiff joint ocular abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A6 ? ### Response: What are the signs and symptoms of Brachydactyly type A6? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital pulmonary alveolar proteinosis ? ### Response: What are the signs and symptoms of Congenital pulmonary alveolar proteinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary alveolar proteinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardiac valvular dysplasia, X-linked ? ### Response: What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klippel Feil syndrome ? ### Response: Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Klippel Feil syndrome ? ### Response: What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Klippel Feil syndrome ? ### Response: What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. " "Below is an instruction from Human. Write a response. ### Instruction: Is Klippel Feil syndrome inherited ? ### Response: Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Klippel Feil syndrome ? ### Response: How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klippel Feil syndrome ? ### Response: How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nodular nonsuppurative panniculitis ? ### Response: Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nodular nonsuppurative panniculitis ? ### Response: What are the signs and symptoms of Nodular nonsuppurative panniculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular nonsuppurative panniculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nodular nonsuppurative panniculitis ? ### Response: How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another underlying disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteogenesis imperfecta type VI ? ### Response: Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct ""fish-scale"" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta type VI ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). " "Below is an instruction from Human. Write a response. ### Instruction: Is Osteogenesis imperfecta type VI inherited ? ### Response: How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteogenesis imperfecta type VI ? ### Response: Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cone-rod dystrophy ? ### Response: Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone-rod dystrophy ? ### Response: What are the signs and symptoms of Cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cone-rod dystrophy ? ### Response: How might cone-rod dystrophy be treated? Currently, there is no therapy that stops the evolution of cone-rod dystrophy or restores vision. There are a few treatment options, such as light avoidance and the use of low-vision aids that may help to slow down the degenerative process. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia Algerian type ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sjogren syndrome ? ### Response: Sjgren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of the disorder are dry mouth and dry eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sjogren syndrome ? ### Response: What are the signs and symptoms of Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sjogren syndrome ? ### Response: What causes Sjogren syndrome? Sjogren syndrome likely results from a combination of genetic and environmental factors (multifactorial). Several different genes appear to affect the risk of developing the condition, however, specific genes have yet to be confirmed. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sjogren syndrome inherited ? ### Response: Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome have relatives with autoimmune diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stickler syndrome, type 2 ? ### Response: Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stickler syndrome, type 2 ? ### Response: What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Orofaciodigital syndrome 1 ? ### Response: Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 1 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 1? Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palate, hypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Orofaciodigital syndrome 1 ? ### Response: Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1 is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Potocki-Lupski syndrome ? ### Response: Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Potocki-Lupski syndrome ? ### Response: What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary angioedema ? ### Response: Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary angioedema ? ### Response: What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary angioedema ? ### Response: How might hereditary angioedema be treated? Medical treatment of hereditary angioedema (HAE) consists of preventing attacks and managing acute attacks once they occur. During attacks, patients may require respiratory support. They also may require large amounts of intravenous fluids to maintain hemodynamic stability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brooks Wisniewski Brown syndrome ? ### Response: What are the signs and symptoms of Brooks Wisniewski Brown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooks Wisniewski Brown syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Endometrial stromal sarcoma ? ### Response: Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Achondrogenesis ? ### Response: Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achondrogenesis ? ### Response: What are the signs and symptoms of Achondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Achondrogenesis ? ### Response: What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. " "Below is an instruction from Human. Write a response. ### Instruction: Is Achondrogenesis inherited ? ### Response: How is achondrogenesis inherited? Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital varicella syndrome ? ### Response: Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital varicella syndrome ? ### Response: What are the signs and symptoms of Congenital varicella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital varicella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Creutzfeldt-Jakob disease ? ### Response: Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Creutzfeldt-Jakob disease ? ### Response: What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Creutzfeldt-Jakob disease ? ### Response: What causes Creutzfeldt-Jakob disease? Some researchers believe an unusual 'slow virus' or another organism causes Creutzfeldt-Jakob disease (CJD). However, they have never been able to isolate a virus or other organism in people with the disease. Furthermore, the agent that causes CJD has several characteristics that are unusual for known organisms such as viruses and bacteria. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Creutzfeldt-Jakob disease ? ### Response: How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Creutzfeldt-Jakob disease ? ### Response: How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic progressive external ophthalmoplegia ? ### Response: Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic progressive external ophthalmoplegia ? ### Response: What are the signs and symptoms of Chronic progressive external ophthalmoplegia? The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40. The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or paralysis of the eye muscles (ophthalmoplegia). " "Below is an instruction from Human. Write a response. ### Instruction: Is Chronic progressive external ophthalmoplegia inherited ? ### Response: Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a ""mitochondrial disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic progressive external ophthalmoplegia ? ### Response: How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Popliteal pterygium syndrome ? ### Response: Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Popliteal pterygium syndrome ? ### Response: What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinal muscular atrophy type 3 ? ### Response: What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial esophageal achalasia ? ### Response: Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial esophageal achalasia ? ### Response: What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital hypothyroidism ? ### Response: Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital hypothyroidism ? ### Response: What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Campomelia Cumming type ? ### Response: What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal hypouricemia ? ### Response: What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Human T-cell leukemia virus type 1 ? ### Response: Human T-cell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Human T-cell leukemia virus type 1 ? ### Response: What are the signs and symptoms of human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) generally causes no signs or symptoms. However, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Human T-cell leukemia virus type 1 ? ### Response: What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Human T-cell leukemia virus type 1 ? ### Response: How is human T-cell leukemia virus, type 1 diagnosed? Human T-cell leukemia virus, type 1 (HTLV-1) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-1 is often never suspected or diagnosed since most people (95%) never develop any signs or symptoms of the infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Human T-cell leukemia virus type 1 ? ### Response: How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 11-beta-hydroxylase deficiency ? ### Response: Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 11-beta-hydroxylase deficiency ? ### Response: What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is 11-beta-hydroxylase deficiency inherited ? ### Response: How is 11-beta-hydroxylase deficiency inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose 11-beta-hydroxylase deficiency ? ### Response: Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive familial intrahepatic cholestasis type 2 ? ### Response: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive familial intrahepatic cholestasis type 2 ? ### Response: What are the signs and symptoms of Progressive familial intrahepatic cholestasis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial intrahepatic cholestasis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carpotarsal osteochondromatosis ? ### Response: What are the signs and symptoms of Carpotarsal osteochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Carpotarsal osteochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Common variable immunodeficiency ? ### Response: Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Common variable immunodeficiency ? ### Response: What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Common variable immunodeficiency ? ### Response: What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Common variable immunodeficiency ? ### Response: How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Apparent mineralocorticoid excess ? ### Response: What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromoblastomycosis ? ### Response: Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Akesson syndrome ? ### Response: What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hyperaldosteronism type III ? ### Response: What are the signs and symptoms of Familial hyperaldosteronism type III ? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperaldosteronism type III . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Varicella virus antenatal infection ? ### Response: What are the signs and symptoms of Varicella virus antenatal infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Varicella virus antenatal infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lipoic acid synthetase deficiency ? ### Response: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipoic acid synthetase deficiency ? ### Response: What are the signs and symptoms of Lipoic acid synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute zonal occult outer retinopathy ? ### Response: Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include ""whitening of vision"" or blurred vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia autosomal recessive 5 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Synovial Chondromatosis ? ### Response: Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Synovial Chondromatosis ? ### Response: What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isolated ACTH deficiency ? ### Response: What are the signs and symptoms of Isolated ACTH deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ACTH deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemangioma thrombocytopenia syndrome ? ### Response: Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemangioma thrombocytopenia syndrome ? ### Response: What are the signs and symptoms of Hemangioma thrombocytopenia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangioma thrombocytopenia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tumor necrosis factor receptor-associated periodic syndrome ? ### Response: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tumor necrosis factor receptor-associated periodic syndrome ? ### Response: What are the signs and symptoms of Tumor necrosis factor receptor-associated periodic syndrome? The characteristic feature of TRAPS is recurrent episodes of fever. Episodes may begin at any age, but most often begin in early childhood. Fevers usually last around 3 weeks but can last from days to months. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tumor necrosis factor receptor-associated periodic syndrome ? ### Response: What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). " "Below is an instruction from Human. Write a response. ### Instruction: Is Tumor necrosis factor receptor-associated periodic syndrome inherited ? ### Response: How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ? ### Response: How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Human T-cell leukemia virus type 2 ? ### Response: Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Human T-cell leukemia virus type 2 ? ### Response: What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Human T-cell leukemia virus type 2 ? ### Response: How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Human T-cell leukemia virus type 2 ? ### Response: How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of D-glycericacidemia ? ### Response: What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital torticollis ? ### Response: What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudohypoparathyroidism type 1C ? ### Response: Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudohypoparathyroidism type 1C ? ### Response: What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 4 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immune defect due to absence of thymus ? ### Response: What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Absent patella ? ### Response: What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prurigo nodularis ? ### Response: Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely. The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prurigo nodularis ? ### Response: Is there treatment for prurigo nodularis? Prurigo nodularis can be challenging to treat. Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 14 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isovaleric acidemia ? ### Response: What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Isovaleric acidemia ? ### Response: What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Isovaleric acidemia inherited ? ### Response: How is isovaleric acidemia inherited? Isovaleric acidemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ? ### Response: BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ? ### Response: What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mandibulofacial dysostosis with microcephaly ? ### Response: Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mandibulofacial dysostosis with microcephaly ? ### Response: What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mandibulofacial dysostosis with microcephaly ? ### Response: What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mandibulofacial dysostosis with microcephaly inherited ? ### Response: How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mandibulofacial dysostosis with microcephaly ? ### Response: Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mandibulofacial dysostosis with microcephaly ? ### Response: How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rett syndrome ? ### Response: Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental ""plateau,"" and then rapid regression in language and motor skills. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rett syndrome ? ### Response: What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Rett syndrome inherited ? ### Response: Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peters plus syndrome ? ### Response: Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peters plus syndrome ? ### Response: What are the signs and symptoms of Peters plus syndrome? No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome : Eye involvement: anomalies of the anterior chamber of the eye (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peters plus syndrome ? ### Response: What are the signs and symptoms of Peters plus syndrome? No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome : Eye involvement: anomalies of the anterior chamber of the eye (e. " "Below is an instruction from Human. Write a response. ### Instruction: Is Peters plus syndrome inherited ? ### Response: How is Peters plus syndrome inherited? Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Peters plus syndrome ? ### Response: Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Peters plus syndrome ? ### Response: What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examination Kidney examination Head examination Thyroid testing Hearing assessment Assessment by a ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 4q deletion ? ### Response: Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 4q deletion ? ### Response: What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected pe " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chromosome 4q deletion ? ### Response: What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. " "Below is an instruction from Human. Write a response. ### Instruction: Is Chromosome 4q deletion inherited ? ### Response: How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chromosome 4q deletion ? ### Response: How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chromosome 4q deletion ? ### Response: How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coxa vara, congenital ? ### Response: What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastroschisis ? ### Response: What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary lateral sclerosis ? ### Response: Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary lateral sclerosis ? ### Response: What are the signs and symptoms of Primary lateral sclerosis? Primary lateral sclerosis (PLS) causes weakness in the voluntary muscles, such as those used to control the legs, arms and tongue. PLS can happen at any age, but it is more common after age 40. A subtype of PLS, known as juvenile primary lateral sclerosis, begins in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary lateral sclerosis ? ### Response: How is primary lateral sclerosis diagnosed? There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). Because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS), several tests are done to rule out other diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? ### Response: What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sertoli cell-only syndrome ? ### Response: Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sertoli cell-only syndrome ? ### Response: What are the signs and symptoms of Sertoli cell-only syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sertoli cell-only syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MYH7-related scapuloperoneal myopathy ? ### Response: MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MYH7-related scapuloperoneal myopathy ? ### Response: What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes MYH7-related scapuloperoneal myopathy ? ### Response: What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. " "Below is an instruction from Human. Write a response. ### Instruction: What causes MYH7-related scapuloperoneal myopathy ? ### Response: What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ? ### Response: What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurofibromatosis type 1 ? ### Response: Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neurofibromatosis type 1 ? ### Response: What are the signs and symptoms of Neurofibromatosis type 1? People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors (both cancerous and noncancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Neurofibromatosis type 1 ? ### Response: What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is Neurofibromatosis type 1 inherited ? ### Response: How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Neurofibromatosis type 1 ? ### Response: Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neurofibromatosis type 1 ? ### Response: How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17 ? ### Response: What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glycogen storage disease type 13 ? ### Response: Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 13 ? ### Response: What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia). Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glycogen storage disease type 13 ? ### Response: What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Glycogen storage disease type 13 ? ### Response: How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mollaret meningitis ? ### Response: What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lopes Gorlin syndrome ? ### Response: What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Inflammatory myofibroblastic tumor ? ### Response: What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 16q24.3 microdeletion syndrome ? ### Response: 16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 16q24.3 microdeletion syndrome ? ### Response: What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bronchiolitis obliterans organizing pneumonia ? ### Response: Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bronchiolitis obliterans organizing pneumonia ? ### Response: What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bronchiolitis obliterans organizing pneumonia ? ### Response: What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bronchiolitis obliterans organizing pneumonia ? ### Response: What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metaplastic carcinoma of the breast ? ### Response: Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ellis Yale Winter syndrome ? ### Response: What are the signs and symptoms of Ellis Yale Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis Yale Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism, proportionate with hip dislocation ? ### Response: What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Disseminated superficial actinic porokeratosis ? ### Response: Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Disseminated superficial actinic porokeratosis ? ### Response: What are the signs and symptoms of Disseminated superficial actinic porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Disseminated superficial actinic porokeratosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chiari malformation ? ### Response: What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adenoameloblastoma ? ### Response: Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adenoameloblastoma ? ### Response: What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adenoameloblastoma ? ### Response: What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duane syndrome type 3 ? ### Response: Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duane syndrome type 3 ? ### Response: What are the signs and symptoms of Duane syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylocostal dysostosis 2 ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylocostal dysostosis 2 ? ### Response: What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tuberous sclerosis, type 2 ? ### Response: What are the signs and symptoms of Tuberous sclerosis, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichodental syndrome ? ### Response: What are the signs and symptoms of Trichodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porencephaly ? ### Response: Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porencephaly ? ### Response: What are the signs and symptoms of Porencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laryngomalacia ? ### Response: Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by ""floppy"" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laryngomalacia ? ### Response: What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Laryngomalacia inherited ? ### Response: Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Albright's hereditary osteodystrophy ? ### Response: Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Albright's hereditary osteodystrophy ? ### Response: What causes Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to parathyroid hormone, depends on whether the mutated allele comes from the father or the mother. " "Below is an instruction from Human. Write a response. ### Instruction: Is Albright's hereditary osteodystrophy inherited ? ### Response: How is progressive osseous heteroplasia inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Albright's hereditary osteodystrophy ? ### Response: How might Albright's hereditary osteodystrophy be treated? Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transaldolase deficiency ? ### Response: What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ? ### Response: What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Otodental dysplasia ? ### Response: What are the signs and symptoms of Otodental dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Otodental dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudoxanthoma elasticum ? ### Response: What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pseudoxanthoma elasticum ? ### Response: What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pseudoxanthoma elasticum ? ### Response: What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum. Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonic dystrophy type 1 ? ### Response: Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myotonic dystrophy type 1 ? ### Response: What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Myotonic dystrophy type 1 inherited ? ### Response: How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myotonic dystrophy type 1 ? ### Response: How might myotonic dystrophy type 1 associated vision problems be treated? Treatment of eye and vision problems must be individually tailored. Refractive error and astigmatism can be corrected with eyeglasses, contact lenses, or surgery. Special glasses with eye ""crutches"" can be used to improve vision in people with ptosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 1p deletion ? ### Response: Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dermal eccrine cylindroma ? ### Response: Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mannosidosis, beta A, lysosomal ? ### Response: What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Geographic tongue ? ### Response: Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition is called ""areata migrans"" because they typically disappear from one area and move to another. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Geographic tongue ? ### Response: What are the signs and symptoms of Geographic tongue? The lesions seen in geographic tongue resemble those of psoriasis. Most patients do not experience symptoms. It has been estimated that about 5% of individuals who have geographic tongue complain of sensitivity to hot or spicy foods when the their lesions are active. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Geographic tongue ? ### Response: What causes geographic tongue? Is it genetic? The exact cause of geographic tongue has not been identified. However, because the condition may be present in several members of the same family, genetics may increase a person's chances of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Geographic tongue ? ### Response: What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Okamoto syndrome ? ### Response: What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bare lymphocyte syndrome ? ### Response: What are the signs and symptoms of Bare lymphocyte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome 2 ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome 2 ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylothoracic dysostosis ? ### Response: Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylothoracic dysostosis ? ### Response: What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a ""crab-like"" appearance to the rib cage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylothoracic dysostosis ? ### Response: What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a ""crab-like"" appearance to the rib cage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spondylothoracic dysostosis ? ### Response: What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Left ventricular noncompaction ? ### Response: Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Genoa syndrome ? ### Response: Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Genoa syndrome ? ### Response: What are the signs and symptoms of Genoa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genoa syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cold urticaria ? ### Response: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cold urticaria ? ### Response: What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cold urticaria ? ### Response: What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cold urticaria ? ### Response: What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cold urticaria ? ### Response: How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cold urticaria ? ### Response: How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus ? ### Response: What are the signs and symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 46,XX testicular disorder of sex development ? ### Response: 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 46,XX testicular disorder of sex development ? ### Response: What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile spondyloarthropathy ? ### Response: Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleft palate stapes fixation oligodontia ? ### Response: What are the signs and symptoms of Cleft palate stapes fixation oligodontia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate stapes fixation oligodontia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hairy cell leukemia ? ### Response: Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Majeed syndrome ? ### Response: Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Majeed syndrome ? ### Response: What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Majeed syndrome ? ### Response: What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. " "Below is an instruction from Human. Write a response. ### Instruction: Is Majeed syndrome inherited ? ### Response: How is Majeed syndrome inherited? Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Majeed syndrome ? ### Response: How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Atypical hemolytic uremic syndrome ? ### Response: Atypical hemolytic-uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atypical hemolytic uremic syndrome ? ### Response: What are the signs and symptoms of Atypical hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Atypical hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Atypical hemolytic uremic syndrome ? ### Response: Is genetic testing available for atypical hemolytic-uremic syndrome? GeneTests lists the names of laboratories that are performing genetic testing for atypical hemolytic-uremic syndrome. To view the contact information for the clinical laboratories conducting testing click here and follow the ""testing"" link pertaining to each gene. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crusted scabies ? ### Response: Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mites and eggs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urocanase deficiency ? ### Response: What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acromegaly ? ### Response: Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acromegaly ? ### Response: What are the signs and symptoms of Acromegaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculodentodigital dysplasia ? ### Response: Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculodentodigital dysplasia ? ### Response: What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Optic neuritis ? ### Response: Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Optic neuritis ? ### Response: How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, color vision and peripheral vision. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glass-Chapman-Hockley syndrome ? ### Response: The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glass-Chapman-Hockley syndrome ? ### Response: What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glass-Chapman-Hockley syndrome ? ### Response: What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glass-Chapman-Hockley syndrome ? ### Response: How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months of age. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Precocious puberty ? ### Response: Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Precocious puberty ? ### Response: What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Precocious puberty ? ### Response: What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height levels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wells-Jankovic syndrome ? ### Response: What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive hemifacial atrophy ? ### Response: Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 years before stabilizing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive hemifacial atrophy ? ### Response: What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive hemifacial atrophy ? ### Response: What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontotemporal dementia, ubiquitin-positive ? ### Response: What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculocutaneous albinism type 1B ? ### Response: What are the signs and symptoms of Oculocutaneous albinism type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Reticulohistiocytoma ? ### Response: Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Reticulohistiocytoma ? ### Response: How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Reticulohistiocytoma ? ### Response: How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hardikar syndrome ? ### Response: Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hardikar syndrome ? ### Response: What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gestational trophoblastic tumor ? ### Response: What are the signs and symptoms of Gestational trophoblastic tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Gestational trophoblastic tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Doyne honeycomb retinal dystrophy ? ### Response: Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Doyne honeycomb retinal dystrophy ? ### Response: What are the signs and symptoms of Doyne honeycomb retinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Doyne honeycomb retinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Doyne honeycomb retinal dystrophy inherited ? ### Response: How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Doyne honeycomb retinal dystrophy ? ### Response: How might Doyne honeycomb retinal dystrophy (DHRD) be treated? There is currently no cure for Doyne honeycomb retinal dystrophy (DHRD) and treatment options are limited. Management of hereditary retinal dystrophies generally focuses on vision rehabilitation, which involves the use of low vision aids, orientation, and mobility training. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal recessive polycystic kidney disease ? ### Response: Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive polycystic kidney disease ? ### Response: What are the signs and symptoms of Autosomal recessive polycystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive polycystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Autosomal recessive polycystic kidney disease inherited ? ### Response: How is autosomal recessive polycystic kidney disease inherited? Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Autosomal recessive polycystic kidney disease ? ### Response: Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Globozoospermia ? ### Response: Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Globozoospermia ? ### Response: What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Treacher Collins syndrome ? ### Response: Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Treacher Collins syndrome ? ### Response: What are the signs and symptoms of Treacher Collins syndrome? The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Treacher Collins syndrome ? ### Response: What causes Treacher Collins syndrome? Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown. These genes appear to play important roles in the early development of bones and other tissues of the face. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Treacher Collins syndrome ? ### Response: How might Treacher Collins syndrome be treated? There is currently no cure for Treacher Collins syndrome (TCS). Treatment is tailored to the specific needs of each affected person. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic basal ganglia calcification childhood-onset ? ### Response: What are the signs and symptoms of Idiopathic basal ganglia calcification childhood-onset? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic basal ganglia calcification childhood-onset. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coats disease ? ### Response: Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coats disease ? ### Response: What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with periods of no apparent progression are common. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Coats disease ? ### Response: What causes Coats disease? The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina. " "Below is an instruction from Human. Write a response. ### Instruction: Is Coats disease inherited ? ### Response: How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Coats disease ? ### Response: Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coats disease ? ### Response: How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple pterygium syndrome lethal type ? ### Response: Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple pterygium syndrome lethal type ? ### Response: What are the signs and symptoms of Multiple pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bork Stender Schmidt syndrome ? ### Response: What are the signs and symptoms of Bork Stender Schmidt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bork Stender Schmidt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone-rod dystrophy 2 ? ### Response: What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Van Den Bosch syndrome ? ### Response: What are the signs and symptoms of Van Den Bosch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Den Bosch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fatal familial insomnia ? ### Response: Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fatal familial insomnia ? ### Response: What causes fatal familial insomnia? Fatal familial insomnia (FFI) is caused by a specific change (mutation) in the PRNP gene. PRNP encodes the prion protein. Although the exact function of this protein is unknown, scientists suspect that it plays an important role in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fatal familial insomnia inherited ? ### Response: How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fatal familial insomnia ? ### Response: Is genetic testing available for fatal familial insomnia? Yes, genetic testing is available for PRNP, the gene known to cause fatal familial insomnia (FFI). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fatal familial insomnia ? ### Response: How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some of which have shown promising results in animal studies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneal hypesthesia, familial ? ### Response: What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroleptic malignant syndrome ? ### Response: Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ? ### Response: What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 26 ? ### Response: What are the signs and symptoms of Spastic paraplegia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 26. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic acute eosinophilic pneumonia ? ### Response: Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic acute eosinophilic pneumonia ? ### Response: What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Florid papillomatosis of the nipple ? ### Response: What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Squamous cell carcinoma ? ### Response: Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Benign schwannoma ? ### Response: Schwannomas are tumors of the tissue that covers the nerves (nerve sheath). These tumors develop from a type of cell called a Schwann cell, which gives these tumors their name. They are usually benign (not cancerous). Although schwannomas can arise from any nerve in the body, the most common areas include the nerves of the head and neck and those involved with moving the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Benign schwannoma ? ### Response: What are the signs and symptoms of schwannomas? Common signs and symptoms of schwannomas include a slow-growing mass and Tinel shock (electric-like shock when affected area is touched). Some people may experience numbness or other neurological symptoms depending on the size and location of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Benign schwannoma ? ### Response: What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Benign schwannoma inherited ? ### Response: Are schwannomas inherited? Most schwannomas are not inherited. The vast majority of schwannomas occur by chance (sporadically) and as a single tumor. In these cases, people typically do not have affected family members. Around 5-10% of people develop multiple schwannomas. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Benign schwannoma ? ### Response: Is genetic testing available for schwannomas? Genetic testing is not available for many individuals with schwannomas since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to schwannomas such as certain types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Benign schwannoma ? ### Response: How might schwannoma be treated? The best treatment options for schwannoma depends on several factors, including the size and location of the tumor; whether the tumor is benign or malignant (cancerous); and the age and overall health of the affected person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Plasminogen activator inhibitor type 1 deficiency ? ### Response: Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ? ### Response: What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ? ### Response: What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Zlotogora syndrome ? ### Response: What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Palmoplantar keratoderma ? ### Response: Palmoplantar keratoderma (PPK) is a group of conditions characterized by thickening of the palms and soles of the feet. PPK can also be an associated feature of different syndromes. In rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Palmoplantar keratoderma ? ### Response: How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of XK aprosencephaly ? ### Response: What are the signs and symptoms of XK aprosencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for XK aprosencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trigeminal Trophic Syndrome ? ### Response: Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkes Weber syndrome ? ### Response: Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parkes Weber syndrome ? ### Response: What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb); and multiple arteriovenous fistulas (abnormal connections between arteries and veins). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Parkes Weber syndrome ? ### Response: How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Femur fibula ulna syndrome ? ### Response: What are the signs and symptoms of Femur fibula ulna syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femur fibula ulna syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amelogenesis imperfecta local hypoplastic ? ### Response: What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial pemphigus vulgaris ? ### Response: What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glutaric acidemia type II ? ### Response: How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mandibuloacral dysplasia ? ### Response: What are the signs and symptoms of Mandibuloacral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller-Dieker syndrome ? ### Response: Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Miller-Dieker syndrome ? ### Response: What are the signs and symptoms of Miller-Dieker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller-Dieker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immunodeficiency with hyper IgM type 2 ? ### Response: What are the signs and symptoms of Immunodeficiency with hyper IgM type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fibromuscular dysplasia ? ### Response: Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fibromuscular dysplasia ? ### Response: What are the signs and symptoms of Fibromuscular dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibromuscular dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fibromuscular dysplasia ? ### Response: What causes fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Impairment of oral perception ? ### Response: What are the signs and symptoms of Impairment of oral perception? The Human Phenotype Ontology provides the following list of signs and symptoms for Impairment of oral perception. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Unna-Thost palmoplantar keratoderma ? ### Response: Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Unna-Thost palmoplantar keratoderma ? ### Response: What are the signs and symptoms of Unna-Thost palmoplantar keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Unna-Thost palmoplantar keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Benign paroxysmal positional vertigo ? ### Response: What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trisomy 2 mosaicism ? ### Response: Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor growth of the baby while in the womb and multiple birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syndactyly-polydactyly-earlobe syndrome ? ### Response: What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dentinogenesis imperfecta type 2 ? ### Response: Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelodysplastic syndromes ? ### Response: Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myelodysplastic syndromes ? ### Response: What are the signs and symptoms of Myelodysplastic syndromes? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelodysplastic syndromes. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Myelodysplastic syndromes ? ### Response: What causes myelodysplastic syndromes? It is known that the abnormal development of blood cells associated with myelodysplastic syndromes (MDS) develops as the result of a series of somatic genetic changes - mutations that are not inherited that arise after conception - in cells that later become blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 20p12.3 microdeletion syndrome ? ### Response: What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schneckenbecken dysplasia ? ### Response: What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cardiofaciocutaneous syndrome ? ### Response: Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardiofaciocutaneous syndrome ? ### Response: What are the signs and symptoms of Cardiofaciocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiofaciocutaneous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cardiofaciocutaneous syndrome ? ### Response: How might the the itching associated with cardiofaciocutaneous syndrome be treated? Xerosis (dry skin) and pruritus (itching) associated with cardiofaciocutaneous syndrome may be relieved by increasing the amount of moisture in the air or by using hydrating lotions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microsomia hemifacial radial defects ? ### Response: What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Guttate psoriasis ? ### Response: Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hennekam syndrome ? ### Response: Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hennekam syndrome ? ### Response: What are the signs and symptoms of Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laryngeal cleft ? ### Response: A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laryngeal cleft ? ### Response: What are the signs and symptoms of Laryngeal cleft? The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing. Severity of symptoms depends on the severity of the cleft. Swallowing problems, a husky cry and feeding difficulties are common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Laryngeal cleft ? ### Response: How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of PPM-X syndrome ? ### Response: What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multicentric reticulohistiocytosis ? ### Response: Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multicentric reticulohistiocytosis ? ### Response: What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multicentric reticulohistiocytosis ? ### Response: How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Type 1 plasminogen deficiency ? ### Response: Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Type 1 plasminogen deficiency ? ### Response: What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most common clinical manifestation is ligneous conjunctivitis, characterized by development of fibrin-rich, woodlike ('ligneous') pseudomembranous lesions. " "Below is an instruction from Human. Write a response. ### Instruction: Is Type 1 plasminogen deficiency inherited ? ### Response: Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Type 1 plasminogen deficiency ? ### Response: How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyruvate dehydrogenase deficiency ? ### Response: Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyruvate dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency can have a significant effect on fetal development, which may become apparent during late pregnancy with poor fetal weight gain and decreasing levels of estriol in the urine of the mother during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pyruvate dehydrogenase deficiency inherited ? ### Response: How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pyruvate dehydrogenase deficiency ? ### Response: Is genetic testing available for pyruvate dehydrogenase deficiency? Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories conducting testing click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyruvate dehydrogenase deficiency ? ### Response: How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Grubben de Cock Borghgraef syndrome ? ### Response: What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fumarase deficiency ? ### Response: Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fumarase deficiency ? ### Response: What are the signs and symptoms of Fumarase deficiency? Most newborns with fumarase deficiency show severe neurologic abnormalities, including poor feeding, failure to thrive, and poor muscle tone (hypotonia). Early-onset infantile encephalopathy (altered brain structure or function), seizures, and severe developmental delay with microcephaly are also common. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fumarase deficiency ? ### Response: What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fumarase deficiency ? ### Response: How might fumarase deficiency be treated? There is currently no effective treatment for fumarase deficiency. Nutritional intervention may be appropriate for children with feeding difficulties. Physical therapy and wheelchairs can also be useful for some individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thakker-Donnai syndrome ? ### Response: What are the signs and symptoms of Thakker-Donnai syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thakker-Donnai syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dowling-Degos disease ? ### Response: Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Freeman Sheldon syndrome ? ### Response: Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Freeman Sheldon syndrome ? ### Response: What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Freeman Sheldon syndrome ? ### Response: How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypoplastic left heart syndrome ? ### Response: Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypoplastic left heart syndrome ? ### Response: What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypoplastic left heart syndrome ? ### Response: How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by keeping the ductus arteriosus open. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial partial lipodystrophy associated with PPARG mutations ? ### Response: What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A4 ? ### Response: What are the signs and symptoms of Brachydactyly type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ameloonychohypohidrotic syndrome ? ### Response: What are the signs and symptoms of Ameloonychohypohidrotic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ameloonychohypohidrotic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Long QT syndrome ? ### Response: Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Long QT syndrome ? ### Response: What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the National Heart Lung and Blood Institute's Web site by clicking here. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Long QT syndrome ? ### Response: What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Long QT syndrome ? ### Response: How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosis of long QT syndrome has been made or is suspected on clinical grounds. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chiari malformation type 3 ? ### Response: What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glutaric acidemia type III ? ### Response: Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glutaric acidemia type III ? ### Response: What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aquagenic pruritus ? ### Response: Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aquagenic pruritus ? ### Response: Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aquagenic pruritus ? ### Response: What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short rib-polydactyly syndrome type 3 ? ### Response: What are the signs and symptoms of Short rib-polydactyly syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Meleda disease ? ### Response: What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Burn-Mckeown syndrome ? ### Response: What are the signs and symptoms of Burn-Mckeown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of White sponge nevus of cannon ? ### Response: What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar degeneration and corneal dystrophy ? ### Response: What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liposarcoma ? ### Response: Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Liposarcoma ? ### Response: How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fructosuria ? ### Response: What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hailey-Hailey disease ? ### Response: Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hailey-Hailey disease ? ### Response: What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hailey-Hailey disease inherited ? ### Response: How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hailey-Hailey disease ? ### Response: Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hailey-Hailey disease ? ### Response: How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid ""triggers"" such as sunburn, sweating, and friction, and to keep the affected areas dry. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scalp ear nipple syndrome ? ### Response: What are the signs and symptoms of Scalp ear nipple syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp ear nipple syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 2 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ? ### Response: What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ? ### Response: What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 17-alpha-hydroxylase deficiency ? ### Response: What are the signs and symptoms of 17-alpha-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-alpha-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Growth hormone deficiency ? ### Response: Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 17 ? ### Response: What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blue cone monochromatism ? ### Response: Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Blue cone monochromatism ? ### Response: What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pontocerebellar hypoplasia type 3 ? ### Response: What are the signs and symptoms of Pontocerebellar hypoplasia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperlipidemia type 3 ? ### Response: What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Long QT syndrome 3 ? ### Response: What are the signs and symptoms of Long QT syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked dominant scapuloperoneal myopathy ? ### Response: X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked dominant scapuloperoneal myopathy ? ### Response: What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked dominant scapuloperoneal myopathy ? ### Response: What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked dominant scapuloperoneal myopathy ? ### Response: What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinocerebellar ataxia 3 ? ### Response: Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 3 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniofacial dyssynostosis ? ### Response: What are the signs and symptoms of Craniofacial dyssynostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniofacial dyssynostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Macrodactyly of the hand ? ### Response: Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Steatocystoma multiplex ? ### Response: Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Steatocystoma multiplex ? ### Response: What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as well. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Steatocystoma multiplex ? ### Response: What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Steatocystoma multiplex ? ### Response: How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary multiple osteochondromas ? ### Response: Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary multiple osteochondromas ? ### Response: What are the signs and symptoms of Hereditary multiple osteochondromas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary multiple osteochondromas. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary multiple osteochondromas inherited ? ### Response: How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hereditary multiple osteochondromas ? ### Response: Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary multiple osteochondromas ? ### Response: How might hereditary multiple osteochondromas (HMO) be treated? Currently, there is no known medical treatment for HMO. Osteochondromas are not usually removed because they stop growing around age 12. Another consideration is how close the tumor is to the affected bone's growth plate, because surgery can affect how the bone grows. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylocarpotarsal synostosis syndrome ? ### Response: Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylocarpotarsal synostosis syndrome ? ### Response: What are the signs and symptoms of Spondylocarpotarsal synostosis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocarpotarsal synostosis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuronal ceroid lipofuscinosis 10 ? ### Response: Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis 10 ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis 5 ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Encephalocraniocutaneous lipomatosis ? ### Response: What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myopathy congenital ? ### Response: What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitral valve prolapse, familial, X-linked ? ### Response: What are the signs and symptoms of Mitral valve prolapse, familial, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitral valve prolapse, familial, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ebstein's anomaly ? ### Response: Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ebstein's anomaly ? ### Response: What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marden Walker like syndrome ? ### Response: What are the signs and symptoms of Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lethal chondrodysplasia Moerman type ? ### Response: What are the signs and symptoms of Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Colpocephaly ? ### Response: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Colpocephaly ? ### Response: What are the symptoms of colpocephaly? Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Colpocephaly ? ### Response: How might colpocephaly be treated? There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dentinogenesis imperfecta ? ### Response: Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dentinogenesis imperfecta ? ### Response: What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dentinogenesis imperfecta inherited ? ### Response: How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dentinogenesis imperfecta ? ### Response: How might dentinogenesis imperfecta be treated? The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CLOVES syndrome ? ### Response: What are the signs and symptoms of CLOVES syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CLOVES syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ITCH E3 ubiquitin ligase deficiency ? ### Response: What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glucose-6-phosphate dehydrogenase deficiency ? ### Response: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ? ### Response: What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glucose-6-phosphate dehydrogenase deficiency ? ### Response: What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ? ### Response: How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marinesco-Sjogren syndrome ? ### Response: What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hashimoto's syndrome ? ### Response: Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hashimoto's syndrome ? ### Response: What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hashimoto's syndrome ? ### Response: What causes Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hashimoto's syndrome inherited ? ### Response: Is Hashimoto's syndrome inherited? The inheritance pattern of Hashimoto's syndrome is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto's syndrome or another autoimmune disorder likely increases a person's risk of developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratosis follicularis dwarfism and cerebral atrophy ? ### Response: What are the signs and symptoms of Keratosis follicularis dwarfism and cerebral atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis dwarfism and cerebral atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 8 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy type 2H ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gardner syndrome ? ### Response: Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gardner syndrome ? ### Response: What are the signs and symptoms of Gardner syndrome? The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gardner syndrome ? ### Response: What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a ""tumor suppressor."" Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gardner syndrome inherited ? ### Response: How is Gardner syndrome inherited? Gardner syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gardner syndrome ? ### Response: Is genetic testing available for Gardner syndrome? Yes, genetic testing is available for APC, the gene known to cause Gardner syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gardner syndrome ? ### Response: How might Gardner syndrome be treated? Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Apert syndrome ? ### Response: What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Apert syndrome ? ### Response: How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive transformation of germinal centers ? ### Response: Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive transformation of germinal centers ? ### Response: Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive transformation of germinal centers ? ### Response: What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Scurvy ? ### Response: Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scurvy ? ### Response: What are the signs and symptoms of Scurvy? The Human Phenotype Ontology provides the following list of signs and symptoms for Scurvy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Exstrophy-epispadias complex ? ### Response: Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ? ### Response: What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Johnson Munson syndrome ? ### Response: What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive axonal neuropathy with neuromyotonia ? ### Response: What are the signs and symptoms of Autosomal recessive axonal neuropathy with neuromyotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive axonal neuropathy with neuromyotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Omodysplasia 2 ? ### Response: What are the signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barber Say syndrome ? ### Response: Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Barber Say syndrome ? ### Response: What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Revesz syndrome ? ### Response: What are the signs and symptoms of Revesz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Revesz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scholte syndrome ? ### Response: What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias ? ### Response: What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Interstitial cystitis ? ### Response: Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, but several diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jones syndrome ? ### Response: Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jones syndrome ? ### Response: What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jones syndrome ? ### Response: What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. " "Below is an instruction from Human. Write a response. ### Instruction: Is Jones syndrome inherited ? ### Response: How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Jones syndrome ? ### Response: How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 8 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nephropathic cystinosis ? ### Response: Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nephropathic cystinosis ? ### Response: What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sacrococcygeal Teratoma ? ### Response: A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sacrococcygeal Teratoma ? ### Response: How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chang Davidson Carlson syndrome ? ### Response: What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia syndromic 7 ? ### Response: What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic ovarian syndrome ? ### Response: Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic ovarian syndrome ? ### Response: What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acanthoma ? ### Response: An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including ""acantholytic"", ""epidermolytic"", ""clear cell"", and ""melanoacanthoma"". Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acanthoma ? ### Response: How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms. Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Negative rheumatoid factor polyarthritis ? ### Response: What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive myoclonic epilepsy ? ### Response: Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Children's interstitial lung disease ? ### Response: Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Children's interstitial lung disease ? ### Response: How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Richter syndrome ? ### Response: Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Richter syndrome ? ### Response: Are there any recent advancements in the treatment of Richter syndrome? Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with chemotherapy and steroids to treat Richter syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stenotrophomonas maltophilia infection ? ### Response: Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to infection, especially those with severely impaired immune systems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stenotrophomonas maltophilia infection ? ### Response: What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Stenotrophomonas maltophilia infection ? ### Response: What causes Stenotrophomonas maltophilia infection? Stenotrophomonas maltophilia (S. maltophilia) infections are caused by the S. maltophilia bacteria. These bacteria live in various aquatic (water-based) environments. In a hospital setting, they are able to survive and multiply in fluids such as respiratory secretions, urine, and intravenous (IV) fluids. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Stenotrophomonas maltophilia infection ? ### Response: How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stenotrophomonas maltophilia infection ? ### Response: How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tarsal carpal coalition syndrome ? ### Response: Tarsal carpal coalition syndrome is a genetic condition characterized by fusion of the bones in the wrist (carpals), feet (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Approximately 10 affected families have been described. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tarsal carpal coalition syndrome ? ### Response: What are the signs and symptoms of Tarsal carpal coalition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tarsal carpal coalition syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Testicular cancer ? ### Response: What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maple syrup urine disease type 1B ? ### Response: What are the signs and symptoms of Maple syrup urine disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Achondrogenesis type 1A ? ### Response: Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achondrogenesis type 1A ? ### Response: What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Papillary thyroid carcinoma ? ### Response: What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fallopian tube cancer ? ### Response: Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Severe combined immunodeficiency ? ### Response: Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: Is Severe combined immunodeficiency inherited ? ### Response: How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scheie syndrome ? ### Response: What are the signs and symptoms of Scheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for Scheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile idiopathic arthritis ? ### Response: What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa, lethal acantholytic ? ### Response: What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ? ### Response: What are the signs and symptoms of Cholestasis, progressive familial intrahepatic 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Refsum disease, infantile form ? ### Response: Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Refsum disease, infantile form ? ### Response: What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Premature aging Okamoto type ? ### Response: What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili torti onychodysplasia ? ### Response: What are the signs and symptoms of Pili torti onychodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti onychodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wellesley Carmen French syndrome ? ### Response: What are the signs and symptoms of Wellesley Carmen French syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wellesley Carmen French syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Craniometaphyseal dysplasia, autosomal dominant ? ### Response: Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ? ### Response: What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Craniometaphyseal dysplasia, autosomal dominant ? ### Response: What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Craniometaphyseal dysplasia, autosomal dominant inherited ? ### Response: How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Craniometaphyseal dysplasia, autosomal dominant ? ### Response: How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dennis Fairhurst Moore syndrome ? ### Response: What are the signs and symptoms of Dennis Fairhurst Moore syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dennis Fairhurst Moore syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal recessive 3 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal recessive 3 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kleefstra syndrome ? ### Response: What are the signs and symptoms of Kleefstra syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleefstra syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Large granular lymphocyte leukemia ? ### Response: Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 9 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Torsion dystonia with onset in infancy ? ### Response: What are the signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gray zone lymphoma ? ### Response: Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a ""gray zone"" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gray zone lymphoma ? ### Response: How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mesomelic dysplasia Kantaputra type ? ### Response: What are the signs and symptoms of Mesomelic dysplasia Kantaputra type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Kantaputra type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Empty sella syndrome ? ### Response: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Empty sella syndrome ? ### Response: What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Empty sella syndrome inherited ? ### Response: Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect directly causes ESS or is only a predisposing factor. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ? ### Response: Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ? ### Response: What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isolated ectopia lentis ? ### Response: What are the signs and symptoms of Isolated ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ectopia lentis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pityriasis lichenoides ? ### Response: What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ? ### Response: What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis cheek eyebrow syndrome ? ### Response: What are the signs and symptoms of Ichthyosis cheek eyebrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular dystrophy, congenital, megaconial type ? ### Response: What are the signs and symptoms of Muscular dystrophy, congenital, megaconial type? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, megaconial type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tiglic acidemia ? ### Response: What are the signs and symptoms of Tiglic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Tiglic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Baylisascaris infection ? ### Response: Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons often live in close proximity to humans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Baylisascaris infection ? ### Response: How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tuberous sclerosis, type 1 ? ### Response: What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fanconi renotubular syndrome ? ### Response: Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fanconi renotubular syndrome ? ### Response: What are the signs and symptoms of Fanconi renotubular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi renotubular syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Simosa cranio facial syndrome ? ### Response: What are the signs and symptoms of Simosa cranio facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary alveolar microlithiasis ? ### Response: Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary alveolar microlithiasis ? ### Response: What are the signs and symptoms of Pulmonary alveolar microlithiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar microlithiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertrophic neuropathy of Dejerine-Sottas ? ### Response: What are the signs and symptoms of Hypertrophic neuropathy of Dejerine-Sottas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrophic neuropathy of Dejerine-Sottas. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Martsolf syndrome ? ### Response: What are the signs and symptoms of Martsolf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martsolf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atelosteogenesis type 1 ? ### Response: What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemifacial hyperplasia strabismus ? ### Response: What are the signs and symptoms of Hemifacial hyperplasia strabismus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial hyperplasia strabismus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pycnodysostosis ? ### Response: What are the signs and symptoms of Pycnodysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pycnodysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Subaortic stenosis short stature syndrome ? ### Response: What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fabry disease ? ### Response: What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fabry disease inherited ? ### Response: How is Fabry disease inherited? Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome. In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fabry disease ? ### Response: How might Fabry disease be treated? Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications. Treatment for acroparesthesias (pain in the extremities) may include diphenylhydantoin and/or carbamazepine to reduce the frequency and severity of pain crises; or gabapentin, which has also been shown to improve pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulna and fibula, hypoplasia of ? ### Response: What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tricho-dento-osseous syndrome ? ### Response: What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudohypoparathyroidism type 1A ? ### Response: What are the signs and symptoms of Pseudohypoparathyroidism type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Roch-Leri mesosomatous lipomatosis ? ### Response: What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? ### Response: Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? ### Response: What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? ### Response: How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleft palate short stature vertebral anomalies ? ### Response: What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) La Crosse encephalitis ? ### Response: La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of La Crosse encephalitis ? ### Response: What are the symptoms of La Crosse (LAC) encephalitis? Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for La Crosse encephalitis ? ### Response: How might La Crosse (LAC) encephalitis be treated? There is no specific treatment for LAC encephalitis. Severe cases are treated with supportive therapy which may include hospitalization, respiratory support, IV fluids and prevention of other infections.[96 " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Felty's syndrome ? ### Response: Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Felty's syndrome ? ### Response: What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Felty's syndrome ? ### Response: What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: Is Felty's syndrome inherited ? ### Response: Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arginase deficiency ? ### Response: Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia in the blood). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arginase deficiency ? ### Response: What are the signs and symptoms of Arginase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Arginase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Arginase deficiency ? ### Response: How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Early-onset, autosomal dominant Alzheimer disease ? ### Response: Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. " "Below is an instruction from Human. Write a response. ### Instruction: Is Early-onset, autosomal dominant Alzheimer disease inherited ? ### Response: How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Madokoro Ohdo Sonoda syndrome ? ### Response: What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Perniosis ? ### Response: Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? ### Response: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? ### Response: What are the signs and symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) L-2-hydroxyglutaric aciduria ? ### Response: L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of L-2-hydroxyglutaric aciduria ? ### Response: What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteogenesis imperfecta type III ? ### Response: Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta type III ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dicarboxylic aminoaciduria ? ### Response: Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dicarboxylic aminoaciduria ? ### Response: What are the signs and symptoms of Dicarboxylic aminoaciduria? There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microgastria limb reduction defect ? ### Response: Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microgastria limb reduction defect ? ### Response: What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type ? ### Response: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia, Aggrecan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome ? ### Response: What are the signs and symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant compelling helio ophthalmic outburst syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Punctate palmoplantar keratoderma type I ? ### Response: What are the signs and symptoms of Punctate palmoplantar keratoderma type I? Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years. Symptoms include multiple, tiny, hard rounded bumps of thickened skin on the palms of the hands and soles of the feet. " "Below is an instruction from Human. Write a response. ### Instruction: Is Punctate palmoplantar keratoderma type I inherited ? ### Response: How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Punctate palmoplantar keratoderma type I ? ### Response: How is punctate palmoplantar keratoderma type I diagnosed? Features that support the diagnosis of punctate palmoplantar keratoderma type I include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell histology (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Punctate palmoplantar keratoderma type I ? ### Response: How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2q37 deletion syndrome ? ### Response: 2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 2q37 deletion syndrome ? ### Response: What are the signs and symptoms of 2q37 deletion syndrome? Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of those with this condition have autism, a developmental condition that affects communication and social interaction. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 2q37 deletion syndrome ? ### Response: What causes 2q37 deletion syndrome? 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: Is 2q37 deletion syndrome inherited ? ### Response: How is 2q37 deletion syndrome inherited? Can it be a hidden trait? Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Preauricular sinus ? ### Response: Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Preauricular sinus ? ### Response: What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Preauricular sinus ? ### Response: How might a preauricular sinus be treated? The majority of preauricular sinuses do not cause symptoms or problems unless they become infected. Common signs of infection include swelling, redness, fluid drainage, and pain. In these cases, treatment typically includes systemic antibiotics. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radial ray hypoplasia choanal atresia ? ### Response: What are the signs and symptoms of Radial ray hypoplasia choanal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial ray hypoplasia choanal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract microcornea syndrome ? ### Response: What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intellectual disability - athetosis - microphthalmia ? ### Response: What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loeys-Dietz syndrome type 2 ? ### Response: What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary venous return anomaly ? ### Response: What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ? ### Response: What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Platyspondylic lethal skeletal dysplasia Torrance type ? ### Response: What are the signs and symptoms of Platyspondylic lethal skeletal dysplasia Torrance type? The Human Phenotype Ontology provides the following list of signs and symptoms for Platyspondylic lethal skeletal dysplasia Torrance type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dykes Markes Harper syndrome ? ### Response: What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mosaic trisomy 8 ? ### Response: Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mosaic trisomy 8 ? ### Response: What are the signs and symptoms of Mosaic trisomy 8? The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monoclonal gammopathy of undetermined significance ? ### Response: Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Auriculo-condylar syndrome ? ### Response: What are the signs and symptoms of Auriculo-condylar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cockayne syndrome ? ### Response: Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cockayne syndrome ? ### Response: What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tubulointerstitial nephritis and uveitis ? ### Response: What are the signs and symptoms of Tubulointerstitial nephritis and uveitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tubulointerstitial nephritis and uveitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital lipoid adrenal hyperplasia ? ### Response: What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ? ### Response: Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ? ### Response: What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal extreme pain disorder ? ### Response: Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paroxysmal extreme pain disorder ? ### Response: What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anonychia congenita ? ### Response: Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed fingernails and toenails. Affected individuals usually do not have hair, teeth, or bone abnormalities. Signs and symptoms are variable, even among affected members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anonychia congenita ? ### Response: What are the signs and symptoms of Anonychia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anonychia congenita ? ### Response: What are the signs and symptoms of Anonychia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly cervical spine fusion anomalies ? ### Response: What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Genochondromatosis ? ### Response: What are the signs and symptoms of Genochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Genochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Camurati Engelmann disease, type 2 ? ### Response: Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ? ### Response: What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Histidinuria renal tubular defect ? ### Response: What are the signs and symptoms of Histidinuria renal tubular defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinuria renal tubular defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epithelioid sarcoma ? ### Response: Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It may also be found in the legs, trunk, head or neck regions. It is rare in young children and adults, and it occurs more frequently in men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Salcedo syndrome ? ### Response: What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Selective IgM deficiency ? ### Response: Selective IgM deficiency or ""Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of other immunoglobulins and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dent disease 1 ? ### Response: Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcinosis), and kidney stones (nephrolithiasis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dent disease 1 ? ### Response: What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 47, XYY syndrome ? ### Response: 47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 47, XYY syndrome ? ### Response: What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). " "Below is an instruction from Human. Write a response. ### Instruction: Is 47, XYY syndrome inherited ? ### Response: Is 47, XYY syndrome inherited? 47, XYY syndrome is usually not inherited. It is typically due to a random event during the formation of a sperm cell. Recurrence of 47, XYY syndrome in a family is rare. The recurrence risk for siblings and other family members is not thought to be increased. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fryns Hofkens Fabry syndrome ? ### Response: What are the signs and symptoms of Fryns Hofkens Fabry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns Hofkens Fabry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thymic-Renal-Anal-Lung dysplasia ? ### Response: What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prieto X-linked mental retardation syndrome ? ### Response: What are the signs and symptoms of Prieto X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maple syrup urine disease type 1A ? ### Response: What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypomelia mullerian duct anomalies ? ### Response: What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reticuloendotheliosis ? ### Response: What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myoclonic epilepsy with ragged red fibers ? ### Response: Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myoclonic epilepsy with ragged red fibers ? ### Response: What are the signs and symptoms of Myoclonic epilepsy with ragged red fibers? Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of diseases that affect the mitochondria. MERRF is a progressive multi-system syndrome with symptoms that begin during childhood, but onset may occur in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Myoclonic epilepsy with ragged red fibers inherited ? ### Response: Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited? MERRF is caused by mutations in the mitochondrial DNA and is transmitted by maternal inheritance. It is called maternal inheritance because a child inherits the great majority of their mitochondria from their mother through the egg. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barraquer-Simons syndrome ? ### Response: Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Barraquer-Simons syndrome ? ### Response: What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Barraquer-Simons syndrome ? ### Response: How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation syndrome, Belgian type ? ### Response: What are the signs and symptoms of Mental retardation syndrome, Belgian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation syndrome, Belgian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniosynostosis, anal anomalies, and porokeratosis ? ### Response: What are the signs and symptoms of Craniosynostosis, anal anomalies, and porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis, anal anomalies, and porokeratosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) TAR syndrome ? ### Response: TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of TAR syndrome ? ### Response: What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 48,XXYY syndrome ? ### Response: 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 48,XXYY syndrome ? ### Response: What are signs and symptoms of 48,XXYY syndrome? 48,XXYY affects various body systems including disruption of male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 48,XXYY syndrome ? ### Response: What causes 48,XXYY? 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 48,XXYY syndrome ? ### Response: What causes 48,XXYY? 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 1 ? ### Response: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 1 ? ### Response: What are the signs and symptoms of Aicardi-Goutieres syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Restless legs syndrome ? ### Response: Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prolactinoma, familial ? ### Response: A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones. A prolactinoma causes increased levels of the hormone prolactin. The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 4 ? ### Response: What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mastocytic enterocolitis ? ### Response: Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneous mastocytosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mastocytic enterocolitis ? ### Response: What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mastocytic enterocolitis ? ### Response: How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mastocytic enterocolitis ? ### Response: How might mastocytic enterocolitis be treated? There is very limited information in the medical literature about the treatment of mastocytic enterocolitis. Options that have been suggested include antihistamines and/or medications that alter mast cell mediator release and function, or mast cell stabilizers. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Buerger disease ? ### Response: Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or other tobacco use. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Buerger disease ? ### Response: What are the signs and symptoms of Buerger disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Buerger disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Buerger disease ? ### Response: What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extracts into their skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Buerger disease ? ### Response: How is Buerger disease treated? Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products. Even one cigarette a day can worsen the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marshall syndrome ? ### Response: Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marshall syndrome ? ### Response: What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniodiaphyseal dysplasia ? ### Response: What are the signs and symptoms of Craniodiaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniodiaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculo skeletal renal syndrome ? ### Response: What are the signs and symptoms of Oculo skeletal renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo skeletal renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lafora disease ? ### Response: Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lafora disease ? ### Response: What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lafora disease inherited ? ### Response: Is Lafora disease inherited? Lafora disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lafora disease ? ### Response: How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lafora disease ? ### Response: How might Lafora disease be treated? Unfortunately, there is currently no cure for Lafora disease or way to slow the progression of the condition. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to managed generalized seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Granulomatous Amebic Encephalitis ? ### Response: Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypocomplementemic urticarial vasculitis syndrome ? ### Response: Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypocomplementemic urticarial vasculitis syndrome ? ### Response: How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemochromatosis ? ### Response: Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemochromatosis ? ### Response: What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hemochromatosis inherited ? ### Response: Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinopathy pigmentary mental retardation ? ### Response: What are the signs and symptoms of Retinopathy pigmentary mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinopathy pigmentary mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polyneuropathy mental retardation acromicria premature menopause ? ### Response: What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aniridia absent patella ? ### Response: What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebellar degeneration ? ### Response: Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebellar degeneration ? ### Response: What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cerebellar degeneration ? ### Response: What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cerebellar degeneration inherited ? ### Response: Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cerebellar degeneration ? ### Response: How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebellar degeneration ? ### Response: How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brachydactyly type B ? ### Response: Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type B ? ### Response: What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Brachydactyly type B inherited ? ### Response: How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Holzgreve syndrome ? ### Response: What are the signs and symptoms of Holzgreve syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Holzgreve syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ? ### Response: What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dihydrolipoamide dehydrogenase deficiency ? ### Response: Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dihydrolipoamide dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Dihydrolipoamide dehydrogenase deficiency? The signs and symptoms of dihydrolipoamide dehydrogenase (DLD) deficiency can vary widely among affected people. Early-onset DLD deficiency typically appears in early infancy with decreased muscle tone (hypotonia), lethargy, and lactic acidosis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dihydrolipoamide dehydrogenase deficiency ? ### Response: What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work together (enzyme complexes). " "Below is an instruction from Human. Write a response. ### Instruction: Is Dihydrolipoamide dehydrogenase deficiency inherited ? ### Response: How is dihydrolipoamide dehydrogenase deficiency inherited? Dihydrolipoamide dehydrogenase (DLD) deficiency is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dihydrolipoamide dehydrogenase deficiency ? ### Response: How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nephrogenic diabetes insipidus ? ### Response: What are the signs and symptoms of Nephrogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nephrogenic diabetes insipidus ? ### Response: What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nephrogenic diabetes insipidus inherited ? ### Response: How is nephrogenic diabetes insipidus inherited? When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Nephrogenic diabetes insipidus ? ### Response: Is genetic testing available for nephrogenic diabetes insipidus? Yes. GeneTests lists laboratories offering clinical genetic testing for both X-linked and autosomal types of nephrogenic diabetes insipidus. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nephrogenic diabetes insipidus ? ### Response: How might nephrogenic diabetes insipidus be treated? Management is usually best accomplished by a team of physicians and other healthcare professionals. The team may include a nutritionist, a pediatric (or adult) nephrologist or endocrinologist, and a clinical geneticist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lethal congenital contracture syndrome 2 ? ### Response: What are the signs and symptoms of Lethal congenital contracture syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 7, torsion ? ### Response: What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Optic atrophy polyneuropathy deafness ? ### Response: What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetraploidy ? ### Response: What are the signs and symptoms of Tetraploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraploidy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chilaiditi syndrome ? ### Response: Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chilaiditi syndrome ? ### Response: What are the signs and symptoms of Chilaiditi syndrome? The symptoms of Chilaiditi syndrome vary. Chronic recurrent abdominal pain is a common finding. Other symptoms might include nausea, vomiting, constipation, indigestion, difficulty swallowing, and abdominal tenderness, especially in the upper, central area. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chilaiditi syndrome ? ### Response: What causes Chilaiditi syndrome? The exact cause of Chilaiditi syndrome is unknown. The condition appears to occur with higher frequency among individuals with chronic lung disease, scarring of the liver (cirrhosis), and in those with an accumulation of ascites in the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chilaiditi syndrome ? ### Response: How might Chilaiditi syndrome be treated? Treatment of Chilaiditi syndrome is directed at the individual symptoms present. In some cases, treatment is not needed. Reducing (or removing) the pressure within the abdomen may help alleviate symptoms. This may be achieved through conservative measure that address constipation, pain and distention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta type V ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic diplegia infantile type ? ### Response: What are the signs and symptoms of Spastic diplegia infantile type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic diplegia infantile type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lemierre syndrome ? ### Response: Lemierre syndrome is a rare and potentially life-threatening illness. The bacterium responsible for this disease is typically Fusobacterium necrophorum, although a wide variety of bacteria have been reported as causing the disease. The bacterial infection begins in the oropharynx then spreads through the lymphatic vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lemierre syndrome ? ### Response: What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the internal jugular vein. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lemierre syndrome ? ### Response: What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lemierre syndrome ? ### Response: What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lemierre syndrome ? ### Response: How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pachygyria, frontotemporal ? ### Response: What are the signs and symptoms of Pachygyria, frontotemporal? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria, frontotemporal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 3-Hydroxyisobutyric aciduria ? ### Response: 3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). " "Below is an instruction from Human. Write a response. ### Instruction: Is 3-Hydroxyisobutyric aciduria inherited ? ### Response: Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 3-Hydroxyisobutyric aciduria ? ### Response: How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kienbock's disease ? ### Response: Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kienbock's disease ? ### Response: What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kienbock's disease ? ### Response: What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kienbock's disease ? ### Response: What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tyrosinemia type 3 ? ### Response: Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tyrosinemia type 3 ? ### Response: What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neutral lipid storage disease with myopathy ? ### Response: Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neutral lipid storage disease with myopathy ? ### Response: What are the signs and symptoms of Neutral lipid storage disease with myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutral lipid storage disease with myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Neutral lipid storage disease with myopathy ? ### Response: What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. " "Below is an instruction from Human. Write a response. ### Instruction: Is Neutral lipid storage disease with myopathy inherited ? ### Response: How is neutral lipid storage disease with myopathy inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neutral lipid storage disease with myopathy ? ### Response: How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Melanoma astrocytoma syndrome ? ### Response: What are the signs and symptoms of Melanoma astrocytoma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Melanoma astrocytoma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial exudative vitreoretinopathy ? ### Response: Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. " "Below is an instruction from Human. Write a response. ### Instruction: Is Familial exudative vitreoretinopathy inherited ? ### Response: How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: Is Familial exudative vitreoretinopathy inherited ? ### Response: How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked sideroblastic anemia ? ### Response: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked sideroblastic anemia ? ### Response: What are the signs and symptoms of X-linked sideroblastic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked sideroblastic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Medulloblastoma ? ### Response: What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Desmosterolosis ? ### Response: What are the signs and symptoms of Desmosterolosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmosterolosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nonseminomatous germ cell tumor ? ### Response: Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wildervanck syndrome ? ### Response: Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wildervanck syndrome ? ### Response: What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wildervanck syndrome ? ### Response: What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wildervanck syndrome inherited ? ### Response: How is Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? ### Response: What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyle disease ? ### Response: Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyle disease ? ### Response: What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pyle disease inherited ? ### Response: Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prinzmetal's variant angina ? ### Response: Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold, emotional stress, alcohol withdrawal, or vasoconstricting medications. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prinzmetal's variant angina ? ### Response: What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prinzmetal's variant angina ? ### Response: What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hurler syndrome ? ### Response: What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myxopapillary ependymoma ? ### Response: Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myxopapillary ependymoma ? ### Response: How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperlipoproteinemia type 4 ? ### Response: What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hyperlipo-proteinemia type 1 ? ### Response: What are the signs and symptoms of Familial hyperlipo-proteinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperlipo-proteinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone dystrophy X-linked with tapetal-like sheen ? ### Response: What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ? ### Response: Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome, dermatosparaxis type ? ### Response: What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of ""procollagen molecules"" (precursors of collagen). " "Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome, dermatosparaxis type inherited ? ### Response: Is Ehlers-Danlos syndrome, dermatosparaxis type inherited? Ehlers-Danlos syndrome, dermatosparaxis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ehlers-Danlos syndrome, dermatosparaxis type ? ### Response: How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome, dermatosparaxis type ? ### Response: How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hypermobility. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary sensory neuropathy type IE ? ### Response: Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary sensory neuropathy type IE ? ### Response: What are the signs and symptoms of Hereditary sensory neuropathy type IE? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type IE. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary sensory neuropathy type IE inherited ? ### Response: How is hereditary sensory neuropathy type IE inherited? Hereditary sensory neuropathy type IE (HSNIE) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary sensory neuropathy type IE ? ### Response: How might hereditary sensory neuropathy type IE be treated? There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include: meticulous care of the distal limbs, which includes proper fit of shoes, " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dihydropyrimidine dehydrogenase deficiency ? ### Response: Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dihydropyrimidine dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Dihydropyrimidine dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidine dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dihydropyrimidine dehydrogenase deficiency ? ### Response: What causes dihydropyrimidine dehydrogenase (DPD) deficiency? DPD deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which is involved in the breakdown of molecules called uracil and thymine. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dihydropyrimidine dehydrogenase deficiency inherited ? ### Response: How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dihydropyrimidine dehydrogenase deficiency ? ### Response: How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dihydropyrimidine dehydrogenase deficiency ? ### Response: How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ? ### Response: What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kerion celsi ? ### Response: What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Behcet's disease ? ### Response: Behcet's disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive tract, brain, and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Behcet's disease ? ### Response: What are the signs and symptoms of Behcet's disease? Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation (uveitis). The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Behcet's disease ? ### Response: What causes Behcet's disease? The exact cause of Behet's disease is unknown. Most symptoms of the disease are caused by inflammation of the blood vessels. Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Behcet's disease ? ### Response: How might Behcet's disease be treated? Although there is no cure for Behet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lenz Majewski hyperostotic dwarfism ? ### Response: What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary hyperoxaluria type 2 ? ### Response: Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary hyperoxaluria type 2 ? ### Response: What are the signs and symptoms of Primary hyperoxaluria type 2? Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary hyperoxaluria type 2 ? ### Response: What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. " "Below is an instruction from Human. Write a response. ### Instruction: Is Primary hyperoxaluria type 2 inherited ? ### Response: How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary hyperoxaluria type 2 ? ### Response: How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth disease type 1E ? ### Response: Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 1E ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1E. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Split hand/foot malformation X-linked ? ### Response: Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Split hand/foot malformation X-linked ? ### Response: What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dihydropyrimidinase deficiency ? ### Response: What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract anterior polar dominant ? ### Response: What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diffuse mesangial sclerosis ? ### Response: What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leri Weill dyschondrosteosis ? ### Response: Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leri Weill dyschondrosteosis ? ### Response: What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Harrod Doman Keele syndrome ? ### Response: What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypochondroplasia ? ### Response: Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypochondroplasia ? ### Response: What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypochondroplasia ? ### Response: How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nasodigitoacoustic syndrome ? ### Response: What are the signs and symptoms of Nasodigitoacoustic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasodigitoacoustic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneodermatoosseous syndrome ? ### Response: What are the signs and symptoms of Corneodermatoosseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneodermatoosseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteodysplasia familial Anderson type ? ### Response: What are the signs and symptoms of Osteodysplasia familial Anderson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasia familial Anderson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Total Hypotrichosis, Mari type ? ### Response: What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 10 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Complete androgen insensitivity syndrome ? ### Response: Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Complete androgen insensitivity syndrome ? ### Response: What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 19p deletion ? ### Response: Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 13 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 13? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Zunich neuroectodermal syndrome ? ### Response: What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Taurodontism, microdontia, and dens invaginatus ? ### Response: What are the signs and symptoms of Taurodontism, microdontia, and dens invaginatus? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontism, microdontia, and dens invaginatus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spastic paraplegia 11 ? ### Response: Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Selig Benacerraf Greene syndrome ? ### Response: What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ataxia with Oculomotor Apraxia Type 2 ? ### Response: What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia Type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ? ### Response: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ? ### Response: What are the signs and symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Friedreich ataxia ? ### Response: Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Friedreich ataxia ? ### Response: What are the signs and symptoms of Friedreich ataxia? Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Friedreich ataxia ? ### Response: What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. " "Below is an instruction from Human. Write a response. ### Instruction: Is Friedreich ataxia inherited ? ### Response: How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neutropenia chronic familial ? ### Response: What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome Xp22 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome Xp22 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome Xp22 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Desmoplastic infantile ganglioglioma ? ### Response: Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Desmoplastic infantile ganglioglioma ? ### Response: Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Desmoplastic infantile ganglioglioma ? ### Response: Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Desmoplastic infantile ganglioglioma ? ### Response: What treatment is available for desmoplastic infantile gangliomas? Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not documented for all cases reported in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immotile cilia syndrome, due to defective radial spokes ? ### Response: What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Red cell phospholipid defect with hemolysis ? ### Response: What are the signs and symptoms of Red cell phospholipid defect with hemolysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Red cell phospholipid defect with hemolysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tetrasomy X ? ### Response: Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetrasomy X ? ### Response: What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tetrasomy X ? ### Response: What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tubular aggregate myopathy ? ### Response: Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tubular aggregate myopathy ? ### Response: What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tubular aggregate myopathy ? ### Response: What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tubular aggregate myopathy inherited ? ### Response: Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tubular aggregate myopathy inherited ? ### Response: Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hartnup disease ? ### Response: Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Secondary adrenal insufficiency ? ### Response: Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transient erythroblastopenia of childhood ? ### Response: What are the signs and symptoms of Transient erythroblastopenia of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient erythroblastopenia of childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipidosis with triglycerid storage disease ? ### Response: What are the signs and symptoms of Lipidosis with triglycerid storage disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipidosis with triglycerid storage disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectodermal dysplasia mental retardation syndactyly ? ### Response: What are the signs and symptoms of Ectodermal dysplasia mental retardation syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia mental retardation syndactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital toxoplasmosis ? ### Response: What are the signs and symptoms of Congenital toxoplasmosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital toxoplasmosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wyburn Mason's syndrome ? ### Response: Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wyburn Mason's syndrome ? ### Response: What are the signs and symptoms of Wyburn Mason's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wyburn Mason's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pituitary hormone deficiency, combined 4 ? ### Response: What are the signs and symptoms of Pituitary hormone deficiency, combined 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adenylosuccinase deficiency ? ### Response: Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and movement, autistic features, epilepsy, muscle wasting, and feeding problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adenylosuccinase deficiency ? ### Response: What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adenylosuccinase deficiency ? ### Response: What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pierson syndrome ? ### Response: Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pierson syndrome ? ### Response: What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pierson syndrome inherited ? ### Response: How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pierson syndrome ? ### Response: Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Galactose epimerase deficiency ? ### Response: What are the signs and symptoms of Galactose epimerase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Galactose epimerase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ? ### Response: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare condition in which cells called neuroendocrine cells spread and cluster in the small airways of the lungs. The majority of affected individuals are middled-aged women. Symptoms include shortness of breath and coughing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peptidic growth factors deficiency ? ### Response: What are the signs and symptoms of Peptidic growth factors deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Greig cephalopolysyndactyly syndrome ? ### Response: Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Greig cephalopolysyndactyly syndrome ? ### Response: What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Greig cephalopolysyndactyly syndrome inherited ? ### Response: How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Greig cephalopolysyndactyly syndrome ? ### Response: Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Greig cephalopolysyndactyly syndrome ? ### Response: How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myelocerebellar disorder ? ### Response: What are the signs and symptoms of Myelocerebellar disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocerebellar disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sideroblastic anemia ? ### Response: Sideroblastic anemia is a heterogeneous group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sideroblastic anemia ? ### Response: What are the symptoms of sideroblastic anemia? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sideroblastic anemia ? ### Response: What causes sideroblastic anemia? The exact cause of sideroblastic anemia in many patients remains unknown. Reversible sideroblastic anemia can be caused by alcohol, isoniazid, pyrazinamide, cycloserine (a prescription antibiotic that may cause anemia, peripheral neuritis, or seizures by acting as a pyridoxine antagonist or increasing excretion of pyridoxine), chloramphenicol, or copper deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Sideroblastic anemia ? ### Response: How is sideroblastic anemia diagnosed? The principle feature of sideroblastic anemia is slowly progressive, mild, life-long anemia which often goes unnoticed. Symptoms of iron overload may lead to the discovery of this underlying disorder. The history and clinical findings, together with laboratory findings, usually permit accurate diagnosis of each type. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sideroblastic anemia ? ### Response: How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turkey, and tuna are good sources) or supplements - with red blood cell counts returning to near-normal values. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leiomyosarcoma ? ### Response: Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear to be involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leiomyosarcoma ? ### Response: How might leiomyosarcoma be treated? Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian small cell carcinoma ? ### Response: Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ovarian small cell carcinoma ? ### Response: What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial osteochondritis dissecans ? ### Response: Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Familial osteochondritis dissecans ? ### Response: What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Familial osteochondritis dissecans ? ### Response: How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial osteochondritis dissecans ? ### Response: How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pediatric Crohn's disease ? ### Response: Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laurin-Sandrow syndrome ? ### Response: What are the signs and symptoms of Laurin-Sandrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurin-Sandrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glutathione synthetase deficiency ? ### Response: Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glutathione synthetase deficiency ? ### Response: What are the signs and symptoms of Glutathione synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutathione synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A5 ? ### Response: What are the signs and symptoms of Brachydactyly type A5? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectopia pupillae ? ### Response: What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepiphyseal dysplasia congenita ? ### Response: What are the signs and symptoms of Spondyloepiphyseal dysplasia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 1 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prekallikrein deficiency, congenital ? ### Response: What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome 4 ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome 4 ? ### Response: What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome 4 ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Distal chromosome 18q deletion syndrome ? ### Response: Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Distal chromosome 18q deletion syndrome ? ### Response: What are the signs and symptoms of Distal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? ### Response: How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculofaciocardiodental syndrome ? ### Response: Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculofaciocardiodental syndrome ? ### Response: What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diffuse cutaneous mastocytosis ? ### Response: What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult neuronal ceroid lipofuscinosis ? ### Response: What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kaplan Plauchu Fitch syndrome ? ### Response: What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chudley Rozdilsky syndrome ? ### Response: What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 15q deletion ? ### Response: Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital laryngeal palsy ? ### Response: Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It represents 15%-20% of all cases of congenital anomalies of the larynx. It may be bilateral or unilateral. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital laryngeal palsy ? ### Response: What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital laryngeal palsy ? ### Response: How is congenital laryngeal paralysis diagnosed? The following online resources provide information on the diagnosis of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis American Speech-La " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital laryngeal palsy ? ### Response: What treatment is available for congenital laryngeal paralysis? The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal oncocytoma ? ### Response: Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal oncocytoma ? ### Response: What are the signs and symptoms of Renal oncocytoma? Most people with a renal oncocytoma do not have any signs or symptoms. In fact, these tumors are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Renal oncocytoma ? ### Response: What causes a renal oncocytoma? The exact underlying cause of most renal oncocytomas is unknown. However, researchers suspect that acquired (not present at birth) changes in mitochondrial DNA may play a role in the development of some of these tumors. Renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Renal oncocytoma inherited ? ### Response: Is a renal oncocytoma inherited? Most renal oncocytomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, in rare cases, they can occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Renal oncocytoma ? ### Response: How is renal oncocytoma diagnosed? A diagnosis of renal oncocytoma is often suspected based on imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). However, it can be difficult to differentiate a renal oncocytoma from renal cell carcinoma based on imaging studies alone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Renal oncocytoma ? ### Response: How might renal oncocytoma be treated? Most renal oncocytomas are benign (non-cancerous) and metastasis is very rare. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma based on diagnostic imaging tests alone. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Shapiro syndrome ? ### Response: Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Shapiro syndrome ? ### Response: What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the corpus callosum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Shapiro syndrome ? ### Response: What treatment options have been attempted for Shapiro syndrome? Evaluating effective treatment options for Shapiro syndrome can be difficult because of the limited number of diagnosed cases, the periodic nature of the disease, and other factors. Nonetheless, the following have been attempted and have resulted in varying responses: anticonvulsants, clonidine, cyproheptadine, glycopyrrolate, bromocriptine, chlorpromazine, or sympathectomy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Poland syndrome ? ### Response: Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Poland syndrome ? ### Response: What are the signs and symptoms of Poland syndrome? Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Poland syndrome ? ### Response: What causes Poland syndrome? The cause of Poland syndrome is unknown. Most evidence supports the idea that something abnormal happens during the sixth week of fetal development. This event most likely involves the vascular (blood and lymph) system. Speculations include: An interruption of the embryonic blood supply of the arteries that lie under the collarbone (subclavian arteries). " "Below is an instruction from Human. Write a response. ### Instruction: Is Poland syndrome inherited ? ### Response: Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Poland syndrome ? ### Response: When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Poland syndrome ? ### Response: How might Poland syndrome be treated? Management of Poland syndrome may include surgical correction of the chest wall deformities. Surgical options are available to improve appearance in both males and females. In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anaplastic astrocytoma ? ### Response: Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. " "Below is an instruction from Human. Write a response. ### Instruction: Is Anaplastic astrocytoma inherited ? ### Response: Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anaplastic astrocytoma ? ### Response: Is genetic testing available for anaplastic astrocytomas? When anaplastic astrocytomas are not associated with an inherited condition, the cause typically remains unknown. In these cases, genetic testing is not available. However, genetic testing is available for the few genetic disorders that are associated with an increased risk for developing an astrocytoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Perry syndrome ? ### Response: What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary arterial hypertension ? ### Response: Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary arterial hypertension ? ### Response: What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pulmonary arterial hypertension ? ### Response: How might pulmonary arterial hypertension be treated? People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers. The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Guillain-Barre syndrome ? ### Response: Guillain-Barr syndrome is a rare disorder in which the body's immune system attacks part of the peripheral nervous system. Symptoms include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Guillain-Barre syndrome ? ### Response: What are the signs and symptoms of Guillain-Barre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Guillain-Barre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blastomycosis ? ### Response: Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Exogenous ochronosis ? ### Response: Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fanconi anemia ? ### Response: Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fanconi anemia ? ### Response: What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia syndromic 5 ? ### Response: What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dyggve-Melchior-Clausen syndrome ? ### Response: Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyggve-Melchior-Clausen syndrome ? ### Response: What are the signs and symptoms of Dyggve-Melchior-Clausen syndrome? Affected newborns may be small at birth, but otherwise appear normal. Skeletal findings are often recognized first between 1 and 18 months. With age, other characteristics begin to develop. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dyggve-Melchior-Clausen syndrome ? ### Response: How is Dyggve-Melchior-Clausen syndrome diagnosed? DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dyggve-Melchior-Clausen syndrome ? ### Response: How might Dyggve-Melchior-Clausen syndrome be treated? Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Genitopatellar syndrome ? ### Response: What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lowry Wood syndrome ? ### Response: What are the signs and symptoms of Lowry Wood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lowry Wood syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acanthosis nigricans muscle cramps acral enlargement ? ### Response: What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Escobar syndrome, type B ? ### Response: What are the signs and symptoms of Escobar syndrome, type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Escobar syndrome, type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chitayat Meunier Hodgkinson syndrome ? ### Response: What are the signs and symptoms of Chitayat Meunier Hodgkinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Childhood ovarian cancer ? ### Response: Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include germ cell tumors, followed by epithelial tumors, stromal tumors, and then other tumors (such as Burkitt lymphoma and small cell carcinoma of the ovary). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive deafness with stapes fixation ? ### Response: Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive deafness with stapes fixation ? ### Response: What are the signs and symptoms of Progressive deafness with stapes fixation? Deafness, progressive with stapes fixation is characterized by bilateral hearing loss - either conductive or mixed - and stapes fixation. Hearing loss typically begins between ages 8 and 24. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Progressive deafness with stapes fixation ? ### Response: What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive deafness with stapes fixation ? ### Response: How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear implants, depending on its severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progeroid syndrome Petty type ? ### Response: What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mycobacterium Malmoense ? ### Response: Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mycobacterium Malmoense ? ### Response: What are the signs and symptoms of mycobacterium malmoense infection? Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mycobacterium Malmoense ? ### Response: How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Holt-Oram syndrome ? ### Response: Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Holt-Oram syndrome ? ### Response: What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four chambers, and in regulating the development of bones in the arms and hands. " "Below is an instruction from Human. Write a response. ### Instruction: Is Holt-Oram syndrome inherited ? ### Response: How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first time in the affected person and is not inherited from a parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Holt-Oram syndrome ? ### Response: How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Holt-Oram syndrome ? ### Response: How might Holt-Oram syndrome be treated? The treatment of Holt-Oram syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists such as pediatricians, surgeons, cardiologists, orthopedists, and/or other health care professionals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneal dystrophy crystalline of Schnyder ? ### Response: What are the signs and symptoms of Corneal dystrophy crystalline of Schnyder? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy crystalline of Schnyder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 17q11.2 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuhauser Daly Magnelli syndrome ? ### Response: What are the signs and symptoms of Neuhauser Daly Magnelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Daly Magnelli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ? ### Response: What are the signs and symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type VII ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ankylosis of teeth ? ### Response: What are the signs and symptoms of Ankylosis of teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosis of teeth. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Odontoma dysphagia syndrome ? ### Response: What are the signs and symptoms of Odontoma dysphagia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontoma dysphagia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myoepithelial carcinoma ? ### Response: Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myoepithelial carcinoma ? ### Response: How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy may be more effective than proton-based radiation therapy for treating myoepithelial cancers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hairy nose tip ? ### Response: What are the signs and symptoms of Hairy nose tip? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylocostal dysostosis 1 ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylocostal dysostosis 1 ? ### Response: What are the signs and symptoms of Spondylocostal dysostosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatic encephalopathy ? ### Response: Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hepatic encephalopathy inherited ? ### Response: Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly causes HE, it is thought that one of the main causes is the accumulation of ammonia in the blood, which the liver, damaged by alcoholic liver disease, cannot remove. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fibrodysplasia ossificans progressiva ? ### Response: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fibrodysplasia ossificans progressiva ? ### Response: What are the signs and symptoms of Fibrodysplasia ossificans progressiva? Fibrodysplasia ossificans progressiva (FOP) is characterized by the gradual replacement of muscle tissue and connective tissue (such as tendons and ligaments) by bone, restricting movement. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fibrodysplasia ossificans progressiva inherited ? ### Response: How is fibrodysplasia ossificans progressiva inherited? Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fibrodysplasia ossificans progressiva ? ### Response: How might fibrodysplasia ossificans progressiva be treated? There is currently no definitive treatment. However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculodentoosseous dysplasia recessive ? ### Response: What are the signs and symptoms of Oculodentoosseous dysplasia recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentoosseous dysplasia recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive bulbar palsy ? ### Response: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Progressive bulbar palsy ? ### Response: How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive bulbar palsy ? ### Response: How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital porphyria ? ### Response: Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital porphyria ? ### Response: What are the signs and symptoms of Congenital porphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital porphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Russell-Silver syndrome ? ### Response: What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is ""turned on,"" or expressed. " "Below is an instruction from Human. Write a response. ### Instruction: Is Russell-Silver syndrome inherited ? ### Response: Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carbamoyl phosphate synthetase 1 deficiency ? ### Response: Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carbamoyl phosphate synthetase 1 deficiency ? ### Response: What are the signs and symptoms of Carbamoyl phosphate synthetase 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carbamoyl phosphate synthetase 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopenia and sparse hair ? ### Response: What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pontocerebellar hypoplasia type 6 ? ### Response: What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinal intradural arachnoid cysts ? ### Response: What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Palmoplantar keratoderma, epidermolytic ? ### Response: What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 12 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial dilated cardiomyopathy ? ### Response: What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebellar hypoplasia tapetoretinal degeneration ? ### Response: What are the signs and symptoms of Cerebellar hypoplasia tapetoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar hypoplasia tapetoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Branchiootorenal syndrome ? ### Response: Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Branchiootorenal syndrome ? ### Response: What are the signs and symptoms of Branchiootorenal syndrome? Signs and symptoms of branchiootorenal syndrome can vary greatly from person to person and even between people within the same family. Hearing loss is the most common symptom and is shared by approximately 90% of people with this syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Branchiootorenal syndrome ? ### Response: What causes branchiootorenal syndrome? Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is Branchiootorenal syndrome inherited ? ### Response: Is branchiootorenal syndrome inherited? Branchiootorenal syndrome may be inherited or occur sporadically. The inheritance pattern of branchiootorenal syndrome is autosomal dominant. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Branchiootorenal syndrome ? ### Response: How might branchiootorenal syndrome be treated? Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologist (kidney doctor). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukodystrophy ? ### Response: A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia ? ### Response: What are the signs and symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blount disease ? ### Response: Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia) and requires treatment for improvement to occur. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Blount disease ? ### Response: What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Optic atrophy 1 ? ### Response: Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Optic atrophy 1 ? ### Response: What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Epidermolysis bullosa inherited ? ### Response: How is epidermolysis bullosa inherited? Inherited epidermolysis bullosa (EB) may follow either an autosomal dominant or autosomal recessive inheritance pattern, depending on the type and subtype of inherited EB in the affected person. Epidermolysis bullosa simplex (the most common type of EB) is mainly autosomal dominant, except for a few rare autosomal recessive subtypes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Epidermolysis bullosa ? ### Response: How might infections in individuals with epidermolysis bullosa be treated? The chance of contracting a skin infection can be reduced by good nutrition, which builds the bodys defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinal muscular atrophy Ryukyuan type ? ### Response: What are the signs and symptoms of Spinal muscular atrophy Ryukyuan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy Ryukyuan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Partial atrioventricular canal ? ### Response: What are the signs and symptoms of Partial atrioventricular canal? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial atrioventricular canal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 10 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thalamic degeneration, symmetric infantile ? ### Response: What are the signs and symptoms of Thalamic degeneration, symmetric infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration, symmetric infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schimke X-linked mental retardation syndrome ? ### Response: What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arthrogryposis like disorder ? ### Response: What are the signs and symptoms of Arthrogryposis like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hoyeraal Hreidarsson syndrome ? ### Response: What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary orthostatic hypotension ? ### Response: Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinsons disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation X-linked syndromic 7 ? ### Response: What are the signs and symptoms of Mental retardation X-linked syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Galloway-Mowat syndrome ? ### Response: Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Galloway-Mowat syndrome ? ### Response: What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Galloway-Mowat syndrome inherited ? ### Response: How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Galloway-Mowat syndrome ? ### Response: Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Emanuel syndrome ? ### Response: Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Emanuel syndrome ? ### Response: What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypomagnesemia 6 ? ### Response: What are the signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carnitine-acylcarnitine translocase deficiency ? ### Response: Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carnitine-acylcarnitine translocase deficiency ? ### Response: What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Carnitine-acylcarnitine translocase deficiency ? ### Response: What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called ""carnitine-acylcarnitine translocase"" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Carnitine-acylcarnitine translocase deficiency inherited ? ### Response: How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Carnitine-acylcarnitine translocase deficiency ? ### Response: Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Carnitine-acylcarnitine translocase deficiency ? ### Response: How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb-girdle muscular dystrophy type 2I ? ### Response: Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy type 2I ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia type A4 ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertelorism and tetralogy of Fallot ? ### Response: What are the signs and symptoms of Hypertelorism and tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertelorism and tetralogy of Fallot. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia X-linked ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glomerulopathy with fibronectin deposits 2 ? ### Response: What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CREST syndrome ? ### Response: CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CREST syndrome ? ### Response: What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes CREST syndrome ? ### Response: What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose CREST syndrome ? ### Response: How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupus and rheumatoid arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radio renal syndrome ? ### Response: What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness oligodontia syndrome ? ### Response: What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brittle diabetes ? ### Response: Brittle diabetes is characterized by severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that disrupt quality of life, often requiring frequent or prolonged hospitalizations. These unpredictable episodes are due to an absolute insulin dependency, affecting type 1 diabetics almost exclusively. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brittle diabetes ? ### Response: What are the symptoms of brittle diabetes? The main symptom of brittle diabetes is severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that cause a disruption of daily activities. Three clinical presentations have been described: Predominant hyperglycemia with recurrent ketoacidosis, Predominant hypoglycemia, and Mixed hyper- and hypoglycemia. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Brittle diabetes ? ### Response: What causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-care. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Brittle diabetes ? ### Response: How might brittle diabetes be treated? The approach to management depends upon the underlying cause. General management strategies include diabetes education, frequent self-monitoring of blood glucose, the use of a continuous subcutaneous insulin pump in conjunction with a continuous glucose monitoring device, and, in rare cases, pancreas transplantation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nodular regenerative hyperplasia ? ### Response: What are the signs and symptoms of Nodular regenerative hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular regenerative hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intestinal pseudo-obstruction ? ### Response: Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital bilateral absence of the vas deferens ? ### Response: Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital bilateral absence of the vas deferens ? ### Response: What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital bilateral absence of the vas deferens ? ### Response: What causes congenital bilateral absence of the vas deferens (CBAVD)? More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital bilateral absence of the vas deferens inherited ? ### Response: How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital bilateral absence of the vas deferens ? ### Response: Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Olivopontocerebellar atrophy deafness ? ### Response: What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Odontomicronychial dysplasia ? ### Response: What are the signs and symptoms of Odontomicronychial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontomicronychial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ? ### Response: What are the signs and symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, low-birth-weight type with unresponsiveness to growth hormone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ? ### Response: What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive supranuclear palsy atypical ? ### Response: What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrofacial dysostosis Catania type ? ### Response: What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Poikiloderma with neutropenia ? ### Response: What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pallister W syndrome ? ### Response: What are the signs and symptoms of Pallister W syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister W syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Accessory navicular bone ? ### Response: An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Accessory navicular bone ? ### Response: What are the signs and symptoms of Accessory navicular bone? Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Accessory navicular bone ? ### Response: What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Accessory navicular bone ? ### Response: How might accessory navicular bone be treated? If the accessory navicular bone is causing symptoms, activities may be restricted and a softer shoe may be recommended until the symptoms go away. If the symptoms persist a specially and carefully made shoe support may be tried. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) HTLV-1 associated myelopathy/tropical spastic paraparesis ? ### Response: HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic, progressive disease of the nervous system that affects less than 2 percent of people with HTLV-1 infection. Signs and symptoms vary but may include progressive weakness, stiff muscles, muscle spasms, backache, a 'weak' bladder, and constipation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis ? ### Response: What are the signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis? Signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) vary but may include: Progressive weakness Stiff muscles Muscle spasms " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for HTLV-1 associated myelopathy/tropical spastic paraparesis ? ### Response: How might HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) be treated? There is no established treatment program for HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pillay syndrome ? ### Response: What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hemiplegic migraine type 3 ? ### Response: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hemiplegic migraine type 3 ? ### Response: What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Linear scleroderma ? ### Response: Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopathia striata cranial sclerosis ? ### Response: Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopathia striata cranial sclerosis ? ### Response: What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pelvic dysplasia arthrogryposis of lower limbs ? ### Response: What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glycogen storage disease type 4 ? ### Response: Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 4 ? ### Response: What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a ""classic"" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glycogen storage disease type 4 ? ### Response: What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Glycogen storage disease type 4 inherited ? ### Response: How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glycogen storage disease type 4 ? ### Response: How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydranencephaly ? ### Response: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hydranencephaly ? ### Response: How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paget disease of bone ? ### Response: Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paget disease of bone ? ### Response: What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ainhum ? ### Response: Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ainhum ? ### Response: What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial juvenile hyperuricaemic nephropathy ? ### Response: Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial juvenile hyperuricaemic nephropathy ? ### Response: What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fryns syndrome ? ### Response: Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fryns syndrome ? ### Response: What are the signs and symptoms of Fryns syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fryns syndrome inherited ? ### Response: How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to ""run in families"" and has features common to other genetic disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tarsal tunnel syndrome ? ### Response: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tarsal tunnel syndrome ? ### Response: What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tarsal tunnel syndrome ? ### Response: What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tarsal tunnel syndrome ? ### Response: What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Giant platelet syndrome ? ### Response: What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dextrocardia with situs inversus ? ### Response: Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dextrocardia with situs inversus ? ### Response: What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dextrocardia with situs inversus inherited ? ### Response: Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dextrocardia with situs inversus ? ### Response: How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dextrocardia with situs inversus ? ### Response: How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Viljoen Kallis Voges syndrome ? ### Response: What are the signs and symptoms of Viljoen Kallis Voges syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Viljoen Kallis Voges syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili torti developmental delay neurological abnormalities ? ### Response: What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili torti developmental delay neurological abnormalities ? ### Response: What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili torti developmental delay neurological abnormalities ? ### Response: What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hairy tongue ? ### Response: What treatment is available for hairy tongue? Although hairy tongue normally resolves on its own, patients are encouraged to avoid the factors that have been shown to bring about hairy tongue. Treatment usually involves gentle cleaning of the tongue with a soft toothbrush. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nystagmus 3, congenital, autosomal dominant ? ### Response: What are the signs and symptoms of Nystagmus 3, congenital, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 3, congenital, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Filippi syndrome ? ### Response: Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Filippi syndrome ? ### Response: What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Filippi syndrome ? ### Response: How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carnitine palmitoyltransferase 2 deficiency ? ### Response: Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carnitine palmitoyltransferase 2 deficiency ? ### Response: What are the signs and symptoms of Carnitine palmitoyltransferase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine palmitoyltransferase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) C1q nephropathy ? ### Response: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hall Riggs mental retardation syndrome ? ### Response: What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ocular cicatricial pemphigoid ? ### Response: Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ocular cicatricial pemphigoid ? ### Response: What are the signs and symptoms of Ocular cicatricial pemphigoid? The Human Phenotype Ontology provides the following list of signs and symptoms for Ocular cicatricial pemphigoid. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anencephaly and spina bifida X-linked ? ### Response: What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Premature ovarian failure, familial ? ### Response: What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paralysis agitans, juvenile, of Hunt ? ### Response: What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intracranial arteriovenous malformation ? ### Response: Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Small cell carcinoma of the bladder ? ### Response: What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Factor XIII deficiency ? ### Response: Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Factor XIII deficiency ? ### Response: What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Factor XIII deficiency ? ### Response: How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chondrodysplasia punctata 1, X-linked recessive ? ### Response: Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ? ### Response: What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) C syndrome ? ### Response: C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of C syndrome ? ### Response: What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichothiodystrophy nonphotosensitive ? ### Response: What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type IV ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carney complex ? ### Response: Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carney complex ? ### Response: What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Long QT syndrome 1 ? ### Response: Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Long QT syndrome 1 ? ### Response: What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 5 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Localized scleroderma ? ### Response: Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Localized scleroderma ? ### Response: What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area. The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Localized scleroderma ? ### Response: What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Localized scleroderma ? ### Response: How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paroxysmal nocturnal hemoglobinuria ? ### Response: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalocytic interstitial nephritis ? ### Response: Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Megalocytic interstitial nephritis ? ### Response: What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Megalocytic interstitial nephritis ? ### Response: What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sideroblastic anemia pyridoxine-refractory autosomal recessive ? ### Response: Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ? ### Response: What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sideroblastic anemia pyridoxine-refractory autosomal recessive ? ### Response: What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ? ### Response: How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastrocutaneous syndrome ? ### Response: What are the signs and symptoms of Gastrocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastrocutaneous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile ossifying fibroma ? ### Response: Juvenile ossifying fibroma (JOF) is rare, benign tumor of the craniofacial (skull and face) bones. It is considered a ""fibro-osseous neoplasm"" because it is characterized by an overgrowth of bone. Affected people generally experience a gradual or rapid, painless expansion of the affected bone or region. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Optic atrophy 2 ? ### Response: What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Androgen insensitivity syndrome ? ### Response: Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Androgen insensitivity syndrome ? ### Response: What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple sclerosis ? ### Response: Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple sclerosis ? ### Response: What are the signs and symptoms of Multiple sclerosis? The peak age of onset is between ages 20 and 40, although it may develop in children and has also been identified in individuals over 60 years of age. The most common signs and symptoms include sensory disturbance of the limbs; partial or complete visual loss; acute and subacute motor dysfunction of the limbs; diplopia (double vision); and gait dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple sclerosis ? ### Response: What causes multiple sclerosis? Studies suggest that there are many factors that influence whether a person will develop multiple sclerosis (MS). The factors that contribute to its onset are multiple and may vary from person to person. The signs and symptoms of MS occur as a result of inflammation, loss of the protective nerve covering (myelin), and the breakdown of nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multiple sclerosis ? ### Response: How is multiple sclerosis diagnosed? Symptoms of multiple sclerosis (MS) may be similar to those of many other nervous system disorders. The disease is made based on the person's signs and symptoms and is typically diagnosed by ruling out other conditions. ""Dissemination in time and space"" are commonly-used criteria for diagnosing the relapsing-remitting form of MS (RR-MS). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ledderhose disease ? ### Response: Ledderhose disease is a type of plantar fibromatosis characterized by thickening of the foot's deep connective tissue. While many individuals with Ledderhose disease do not experience symptoms, over time the condition may progress, causing considerable pain when walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ledderhose disease ? ### Response: What are the signs and symptoms of Ledderhose disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ledderhose disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ledderhose disease ? ### Response: How might Ledderhose disease be treated? There is little evidence regarding the effectiveness of specific treatment approaches for Ledderhose disease. Initial treatment approach may invovle regular (monthly or less often) glucocorticoid injection and soft shoe inserts with cutouts for the nodules. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blepharospasm ? ### Response: Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Blepharospasm ? ### Response: What are the signs and symptoms of Blepharospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) VLCAD deficiency ? ### Response: VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes VLCAD deficiency ? ### Response: What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. " "Below is an instruction from Human. Write a response. ### Instruction: Is VLCAD deficiency inherited ? ### Response: Is VLCAD deficiency inherited? VLCAD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose VLCAD deficiency ? ### Response: How is VLCAD deficiency diagnosed? A diagnosis of VLCAD deficiency may be suspected based on an abnormal newborn screen or the presence of characteristic signs and symptoms. In both of these cases, additional testing can then be ordered to further investigate the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for VLCAD deficiency ? ### Response: How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nocardiosis ? ### Response: Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), brain (headaches and seizures), and skin (skin infections, ulcers, and abscesses). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Telfer Sugar Jaeger syndrome ? ### Response: What are the signs and symptoms of Telfer Sugar Jaeger syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Telfer Sugar Jaeger syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Van Regemorter Pierquin Vamos syndrome ? ### Response: What are the signs and symptoms of Van Regemorter Pierquin Vamos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Regemorter Pierquin Vamos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) BOD syndrome ? ### Response: BOD syndrome is a genetic condition characterized by underdeveloped pinky toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of BOD syndrome ? ### Response: What are the signs and symptoms of BOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BOD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperlipoproteinemia type 5 ? ### Response: What are the signs and symptoms of Hyperlipoproteinemia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of L1 syndrome ? ### Response: What are the signs and symptoms of L1 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for L1 syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erdheim-Chester disease ? ### Response: Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Erdheim-Chester disease ? ### Response: What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Erdheim-Chester disease ? ### Response: What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial eosinophilia ? ### Response: What are the signs and symptoms of Familial eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial eosinophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? ### Response: What are the signs and symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial colorectal cancer ? ### Response: What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Goldberg-Shprintzen megacolon syndrome ? ### Response: Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Goldberg-Shprintzen megacolon syndrome ? ### Response: What are the signs and symptoms of Goldberg-Shprintzen megacolon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Goldberg-Shprintzen megacolon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Blepharoptosis myopia ectopia lentis ? ### Response: What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beriberi ? ### Response: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loose anagen hair syndrome ? ### Response: What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fetal cystic hygroma ? ### Response: Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fetal cystic hygroma ? ### Response: What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Al Gazali Sabrinathan Nair syndrome ? ### Response: What are the signs and symptoms of Al Gazali Sabrinathan Nair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Al Gazali Sabrinathan Nair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Immunodeficiency with hyper IgM type 1 ? ### Response: Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a persons immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency cant get rid of germs or protect themselves from new germs as well as they should. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Immunodeficiency with hyper IgM type 1 ? ### Response: What causes hyper IgM syndrome? A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and IgG. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Immunodeficiency with hyper IgM type 1 ? ### Response: How might hyper IgM syndrome be treated? The cornerstone of treatment for individuals with hyper IgM syndrome is regular injections of intravenous immunogloblulin (IVIG). This treatment not only supplies missing IgG antibodies, but also prompts a drop in IgM antibodies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Verloove Vanhorick Brubakk syndrome ? ### Response: What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alport syndrome ? ### Response: Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alport syndrome ? ### Response: What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alport syndrome ? ### Response: What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alport syndrome inherited ? ### Response: How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alport syndrome ? ### Response: How might Alport syndrome be treated? Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Temporomandibular ankylosis ? ### Response: Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bartter syndrome antenatal type 2 ? ### Response: What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dihydropteridine reductase deficiency ? ### Response: Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dihydropteridine reductase deficiency ? ### Response: What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ? ### Response: What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 2. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pectus carinatum ? ### Response: Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ornithine translocase deficiency syndrome ? ### Response: What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Birdshot chorioretinopathy ? ### Response: What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Birdshot chorioretinopathy ? ### Response: What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial complex IV deficiency ? ### Response: Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial complex IV deficiency ? ### Response: What are the signs and symptoms of Mitochondrial complex IV deficiency? There are currently 4 known forms of COX deficiency. The range and severity of signs and symptoms can vary widely from case to case. In one form, referred to as the benign infantile mitochondrial myopathy type, symptoms may be limited to the skeletal muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial complex IV deficiency ? ### Response: How might cytochrome C oxidase deficiency be treated? There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lupus ? ### Response: Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with other lifestyle and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lupus ? ### Response: What are the signs and symptoms of Lupus? You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The Human Phenotype Ontology provides the following list of signs and symptoms for Lupus. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lupus inherited ? ### Response: Is lupus inherited? The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics. Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professionals but can be useful to anyone looking for detailed information. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lupus ? ### Response: How might lupus be treated? For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Weyers acrofacial dysostosis ? ### Response: What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gorlin Bushkell Jensen syndrome ? ### Response: What are the signs and symptoms of Gorlin Bushkell Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Bushkell Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Isolated levocardia ? ### Response: Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects (absent, underdeveloped, or extra spleen), and intestinal malrotation. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Isolated levocardia ? ### Response: Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal organs and major blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) TARP syndrome ? ### Response: TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of TARP syndrome ? ### Response: What are the signs and symptoms of TARP syndrome? TARP is an acronym for the 4 main features that were present in individuals originally diagnosed with TARP syndrome: Talipes equinovarus (clubfoot) Atrial septal defect (ASD) - a heart defect at birth characterized by failure of an opening of the upper heart chambers to close Robin sequence Persistence of the left superior vena cava (SVC). " "Below is an instruction from Human. Write a response. ### Instruction: Is TARP syndrome inherited ? ### Response: How is TARP syndrome inherited? TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose TARP syndrome ? ### Response: Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title ""Test for TARP syndrome"" to find out more information about each test. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 18 ? ### Response: What are the signs and symptoms of Spastic paraplegia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges ? ### Response: What are the signs and symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Freiberg's disease ? ### Response: Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Freiberg's disease ? ### Response: What are the signs and symptoms of Freiberg's disease? Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Freiberg's disease ? ### Response: What causes Freiberg's disease? The exact cause of Freiberg's disease is poorly understood. Some scientists believe that it is a multifactorial condition which is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Freiberg's disease ? ### Response: How is Freiberg's disease diagnosed? A diagnosis of Freiberg's disease is often suspected based on the presence of characteristic signs and symptoms. An X-ray, magnetic resonance imaging (MRI), and/or bone scan can then be ordered to confirm the diagnosis. Other testing such as laboratory studies may also be recommended to rule out other conditions that cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Freiberg's disease ? ### Response: How might Freiberg's disease be treated? The treatment of Freiberg's disease depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. The primary goal of therapy is to rest the joint and reduce pain and swelling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood hypophosphatasia ? ### Response: What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes zoster oticus ? ### Response: Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Herpes zoster oticus ? ### Response: How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for treating this condition has not been confirmed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan-like syndrome with loose anagen hair ? ### Response: Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan-like syndrome with loose anagen hair ? ### Response: What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dysequilibrium syndrome ? ### Response: What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Farber's disease ? ### Response: Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Farber's disease ? ### Response: What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multifocal motor neuropathy ? ### Response: Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multifocal motor neuropathy ? ### Response: What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multifocal motor neuropathy ? ### Response: What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. " "Below is an instruction from Human. Write a response. ### Instruction: Is Multifocal motor neuropathy inherited ? ### Response: Is multifocal motor neuropathy inherited? We are not aware of any evidence that multifocal motor neuropathy (MMN) is inherited or of any reports of familial cases (occurring in more than one person in a family). Furthermore, to our knowledge, no specific genes known to be associated with MMN have been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multifocal motor neuropathy ? ### Response: How might multifocal motor neuropathy be treated? Multifocal motor neuropathy (MMN) is considered treatable with intravenous immune globulin (IVIG). Early treatment shortly after symptoms begin is recommended. Most people have a fairly rapid improvement in weakness with IVIG, but the improvement generally does not last beyond a few months. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porokeratosis, disseminated superficial actinic 1 ? ### Response: What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cryptomicrotia brachydactyly syndrome ? ### Response: What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transcobalamin 1 deficiency ? ### Response: What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Benign familial neonatal-infantile seizures ? ### Response: What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crigler Najjar syndrome, type 1 ? ### Response: Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crigler Najjar syndrome, type 1 ? ### Response: What are the signs and symptoms of Crigler Najjar syndrome, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Seow Najjar syndrome ? ### Response: What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Malonyl-CoA decarboxylase deficiency ? ### Response: What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Passos-Bueno syndrome ? ### Response: What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 17p13.1 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 17p13.1 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17p13.1 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tourette syndrome ? ### Response: Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tourette syndrome ? ### Response: What are the signs and symptoms of Tourette syndrome? The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the ages of 3 and 9 years. Although the symptoms of Tourette syndrome vary from person to person and range from very mild to severe, the majority of cases fall into the mild category. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tourette syndrome ? ### Response: What causes Tourette syndrome? Although the cause of Tourette syndrome is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tourette syndrome inherited ? ### Response: Is Tourette syndrome inherited? Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tourette syndrome ? ### Response: How might Tourette syndrome be treated? Many individuals with Tourette syndrome have mild symptoms and do not require medication. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics are the most consistently useful medications for tic suppression; a number are available but some are more effective than others (for example, haloperidol and pimozide). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ring chromosome 8 ? ### Response: What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Branchial arch syndrome X-linked ? ### Response: What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Annular atrophic lichen planus ? ### Response: Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP - ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pigment-dispersion syndrome ? ### Response: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyogenic granuloma ? ### Response: Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wittwer syndrome ? ### Response: What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypophosphatasia ? ### Response: Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypophosphatasia ? ### Response: What are the signs and symptoms of Hypophosphatasia? The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypophosphatasia ? ### Response: What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hypophosphatasia inherited ? ### Response: How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Teebi Naguib Al Awadi syndrome ? ### Response: What are the signs and symptoms of Teebi Naguib Al Awadi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Naguib Al Awadi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucopolysaccharidosis type IVA ? ### Response: Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type IVA ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mosaic trisomy 9 ? ### Response: What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypoton " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mosaic trisomy 9 ? ### Response: What causes mosaic trisomy 9? Most cases of mosaic trisomy 9 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mosaic trisomy 9 inherited ? ### Response: Is mosaic trisomy 9 inherited? Mosaic trisomy 9 is usually not inherited. It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. In rare cases, mosaic trisomy 9 may be inherited from a parent with a chromosomal rearrangement called a ""pericentric inversion. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mosaic trisomy 9 ? ### Response: How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mosaic trisomy 9 ? ### Response: How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loeys-Dietz syndrome type 4 ? ### Response: What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of VACTERL association ? ### Response: What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes VACTERL association ? ### Response: Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose VACTERL association ? ### Response: Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limbic encephalitis ? ### Response: Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limbic encephalitis ? ### Response: What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Limbic encephalitis ? ### Response: What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not. If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM1 gangliosidosis type 2 ? ### Response: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GM1 gangliosidosis type 2 ? ### Response: What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hemiplegic migraine ? ### Response: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hemiplegic migraine ? ### Response: What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness-infertility syndrome ? ### Response: What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ? ### Response: What are the signs and symptoms of Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis and male hypogonadism ? ### Response: What are the signs and symptoms of Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? ### Response: What are the signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski ? ### Response: What are the signs and symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasty precocious of Danks Mayne and Kozlowski. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cheilitis glandularis ? ### Response: Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cheilitis glandularis ? ### Response: What are the signs and symptoms of Cheilitis glandularis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cheilitis glandularis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cheilitis glandularis ? ### Response: How might cheilitis glandularis be treated? The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate those causes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kallmann syndrome 3 ? ### Response: What are the signs and symptoms of Kallmann syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mercury poisoning ? ### Response: Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alopecia areata ? ### Response: Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia areata ? ### Response: What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porokeratosis, disseminated superficial actinic 2 ? ### Response: What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stuve-Wiedemann syndrome ? ### Response: Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stuve-Wiedemann syndrome ? ### Response: What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chancroid ? ### Response: Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis hystrix gravior ? ### Response: What are the signs and symptoms of Ichthyosis hystrix gravior? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix gravior. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chondrodysplasia punctata 2 X-linked dominant ? ### Response: X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrodysplasia punctata 2 X-linked dominant ? ### Response: What are the signs and symptoms of Chondrodysplasia punctata 2 X-linked dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 2 X-linked dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 6q25 microdeletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculocutaneous albinism type 2 ? ### Response: Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculocutaneous albinism type 2 ? ### Response: What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ceroid lipofuscinosis neuronal 1 ? ### Response: What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meesmann corneal dystrophy ? ### Response: Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane. Over time these cysts can rupture and cause erosions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Meesmann corneal dystrophy ? ### Response: What are the signs and symptoms of Meesmann corneal dystrophy? Patients are usually asymptomatic until adulthood when rupture of the tiny cysts on the cornea cause recurrent erosions. Symptoms may include light sensitivity, contact lens intolerance, redness, pain, and occasionally blurred vision (i. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Meesmann corneal dystrophy ? ### Response: What causes Meesmann corneal dystrophy? Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function. Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meesmann corneal dystrophy ? ### Response: How might Meesmann corneal dystrophy be treated? Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Complex regional pain syndrome ? ### Response: Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Complex regional pain syndrome ? ### Response: What are the signs and symptoms of complex regional pain syndrome? Complex regional pain syndrome (CRPS) usually develops after an injury, surgery, stroke or heart attack. The key symptom of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Complex regional pain syndrome ? ### Response: What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Complex regional pain syndrome ? ### Response: How might complex regional pain syndrome be treated? There is no known cure for complex regional pain syndrome (CRPS). Treatment includes a multidisciplinary approach with the aim of controlling pain symptoms. It has been suggested that when treatment is started within a few months of when symptoms begin, improvement or remission may be possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kapur Toriello syndrome ? ### Response: What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gaucher disease ? ### Response: Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gaucher disease ? ### Response: What are the signs and symptoms of Gaucher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Gaucher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pitt-Hopkins-like syndrome ? ### Response: What are the signs and symptoms of Pitt-Hopkins-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pitt-Hopkins-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteosclerosis with ichthyosis and premature ovarian failure ? ### Response: What are the signs and symptoms of Osteosclerosis with ichthyosis and premature ovarian failure? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteosclerosis with ichthyosis and premature ovarian failure. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Macular degeneration ? ### Response: Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuropathy, hereditary motor and sensory, Okinawa type ? ### Response: What are the signs and symptoms of Neuropathy, hereditary motor and sensory, Okinawa type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, hereditary motor and sensory, Okinawa type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beukes familial hip dysplasia ? ### Response: What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) TEMPI syndrome ? ### Response: TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acromesomelic dysplasia ? ### Response: Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acromesomelic dysplasia ? ### Response: What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Niemann-Pick disease type A ? ### Response: Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Niemann-Pick disease type A ? ### Response: What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Optic atrophy 5 ? ### Response: What are the signs and symptoms of Optic atrophy 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jervell and Lange-Nielsen syndrome 2 ? ### Response: What are the signs and symptoms of Jervell and Lange-Nielsen syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell and Lange-Nielsen syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Methionine adenosyltransferase deficiency ? ### Response: What are the signs and symptoms of Methionine adenosyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Methionine adenosyltransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Littoral cell angioma of the spleen ? ### Response: Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Purpura simplex ? ### Response: What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hemiplegic migraine type 2 ? ### Response: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hemiplegic migraine type 2 ? ### Response: What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial hemiplegic migraine type 2 ? ### Response: How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked lymphoproliferative syndrome ? ### Response: What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ? ### Response: What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Response: 17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Response: What are the signs and symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-beta hydroxysteroid dehydrogenase 3 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Septo-optic dysplasia ? ### Response: Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Septo-optic dysplasia ? ### Response: What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Septo-optic dysplasia ? ### Response: What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Septo-optic dysplasia ? ### Response: What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Septo-optic dysplasia ? ### Response: Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sclerosing mesenteritis ? ### Response: Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall. The cause of this condition is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sclerosing mesenteritis ? ### Response: Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall. The cause of this condition is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sclerosing mesenteritis ? ### Response: How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hairy palms and soles ? ### Response: What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Febrile infection-related epilepsy syndrome ? ### Response: Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Febrile infection-related epilepsy syndrome ? ### Response: What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gonadal dysgenesis, XX type ? ### Response: What are the signs and symptoms of Gonadal dysgenesis, XX type? The Human Phenotype Ontology provides the following list of signs and symptoms for Gonadal dysgenesis, XX type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 1F ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1F? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bednar tumor ? ### Response: Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemangiopericytoma ? ### Response: Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemangiopericytoma ? ### Response: What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemangiopericytoma ? ### Response: What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemangiopericytoma ? ### Response: What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2K ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepiphyseal dysplasia ? ### Response: What are the signs and symptoms of Spondyloepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Char syndrome ? ### Response: Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Char syndrome ? ### Response: What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachyolmia type 3 ? ### Response: What are the signs and symptoms of Brachyolmia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 8 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thyroid hormone plasma membrane transport defect ? ### Response: What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jung Wolff Back Stahl syndrome ? ### Response: What are the signs and symptoms of Jung Wolff Back Stahl syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jung Wolff Back Stahl syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anophthalmos with limb anomalies ? ### Response: What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of DCMA syndrome ? ### Response: What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gardner-Diamond syndrome ? ### Response: Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gardner-Diamond syndrome ? ### Response: What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gardner-Diamond syndrome ? ### Response: What causes Gardner-Diamond syndrome? The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associ " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gardner-Diamond syndrome ? ### Response: How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gardner-Diamond syndrome ? ### Response: How might Gardner-Diamond syndrome be treated? There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. In some people, psychiatric medications for mental illness have helped to improve the symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2L ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2L? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2L. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bamforth syndrome ? ### Response: What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sneddon syndrome ? ### Response: Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sneddon syndrome ? ### Response: What are the signs and symptoms of Sneddon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sneddon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sneddon syndrome ? ### Response: What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipid antibody syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epilepsy progressive myoclonic type 3 ? ### Response: What are the signs and symptoms of Epilepsy progressive myoclonic type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Convulsions benign familial neonatal dominant form ? ### Response: What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 3 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ? ### Response: What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Summitt syndrome ? ### Response: What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism Levi type ? ### Response: What are the signs and symptoms of Dwarfism Levi type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism Levi type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone-rod dystrophy amelogenesis imperfecta ? ### Response: What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Developmental dysphasia familial ? ### Response: Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paragangliomas 1 ? ### Response: What are the signs and symptoms of Paragangliomas 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glanzmann thrombasthenia ? ### Response: Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glanzmann thrombasthenia ? ### Response: What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bronchiolitis obliterans ? ### Response: Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bronchiolitis obliterans ? ### Response: What are the signs and symptoms of bronchiolitis obliterans? Bronchiolitis obliterans is characterized by a dry cough and shortness of breath which develop 2 to 8 weeks after toxic fume exposure or a respiratory illness. Fatigue and wheezing in the absence of a cold or asthma may also be noted. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bronchiolitis obliterans ? ### Response: How might bronchiolitis obliterans be treated? While there is no cure for this condition, treatment with corticosteroids can help to stabilize or slow its progression. Immunosuppressive therapies and lung transplants might also be used. Treatment is most effective during the early stages of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism ? ### Response: What are the signs and symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar ataxia and hypogonadotropic hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camptobrachydactyly ? ### Response: What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ullrich congenital muscular dystrophy ? ### Response: Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ullrich congenital muscular dystrophy ? ### Response: What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ullrich congenital muscular dystrophy ? ### Response: How might Ullrich muscular dystrophy be treated? Physical therapy, including early mobilization, regular stretching and splinting, is the main focus of supportive care. Respiratory support and night-time ventilation often becomes necessary in the first or second decade of life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile osteoporosis ? ### Response: Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile osteoporosis ? ### Response: What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemochromatosis type 4 ? ### Response: Hemochromatosis type 4 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemochromatosis type 4 ? ### Response: What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duane syndrome type 2 ? ### Response: Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duane syndrome type 2 ? ### Response: What are the signs and symptoms of Duane syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thalassemia ? ### Response: Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thalassemia ? ### Response: What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thalassemia ? ### Response: What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. " "Below is an instruction from Human. Write a response. ### Instruction: Is Thalassemia inherited ? ### Response: How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thalassemia ? ### Response: Is genetic testing available for thalassemia? Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Thalassemia ? ### Response: How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron from the body), and/or folic acid supplementation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Clear cell renal cell carcinoma ? ### Response: Clear cell renal cell carcinoma is a cancer of the kidney. The name ""clear cell"" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Clear cell renal cell carcinoma ? ### Response: What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America. IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafenib - are approved by the Food and Drug Administration for the treatment of metastatic clear cell renal cell carcinoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cat scratch disease ? ### Response: Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cat scratch disease ? ### Response: What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Annular pancreas ? ### Response: What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoglophonic dysplasia ? ### Response: What are the signs and symptoms of Osteoglophonic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoglophonic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital chloride diarrhea ? ### Response: What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital chloride diarrhea ? ### Response: How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Morquio syndrome B ? ### Response: What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tetrahydrobiopterin deficiency ? ### Response: Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetrahydrobiopterin deficiency ? ### Response: What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ? ### Response: What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stiff person syndrome ? ### Response: Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stiff person syndrome ? ### Response: What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Stiff person syndrome ? ### Response: What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. " "Below is an instruction from Human. Write a response. ### Instruction: Is Stiff person syndrome inherited ? ### Response: Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Stiff person syndrome ? ### Response: Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Stiff person syndrome ? ### Response: How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dextrocardia ? ### Response: Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Werner's syndrome ? ### Response: What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Penttinen-Aula syndrome ? ### Response: What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glucocorticoid-remediable aldosteronism ? ### Response: Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glucocorticoid-remediable aldosteronism ? ### Response: What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rommen Mueller Sybert syndrome ? ### Response: What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratolytic winter erythema ? ### Response: What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lynch syndrome ? ### Response: Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lynch syndrome ? ### Response: What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lynch syndrome ? ### Response: What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Lynch syndrome inherited ? ### Response: Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lynch syndrome ? ### Response: How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucopolysaccharidosis type IIIC ? ### Response: Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type IIIC ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Merlob Grunebaum Reisner syndrome ? ### Response: What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ? ### Response: What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ? ### Response: Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ? ### Response: What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypomyelination with atrophy of basal ganglia and cerebellum ? ### Response: What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ? ### Response: How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome ? ### Response: What are the signs and symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vein of Galen aneurysm ? ### Response: Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vein of Galen aneurysm ? ### Response: What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Potocki-Shaffer syndrome ? ### Response: How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Monomelic amyotrophy ? ### Response: What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paramyotonia congenita ? ### Response: Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paramyotonia congenita ? ### Response: What are the signs and symptoms of Paramyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Paramyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 18 ? ### Response: What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) AL amyloidosis ? ### Response: AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary edema of mountaineers ? ### Response: What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cornea guttata with anterior polar cataract ? ### Response: What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arachnodactyly - intellectual disability - dysmorphism ? ### Response: What are the signs and symptoms of Arachnodactyly - intellectual disability - dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Arachnodactyly - intellectual disability - dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of FG syndrome 4 ? ### Response: What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing disease ? ### Response: Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cushing disease ? ### Response: What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alzheimer disease ? ### Response: Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prader-Willi syndrome ? ### Response: Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prader-Willi syndrome ? ### Response: What are the signs and symptoms of Prader-Willi syndrome? In infancy, Prader-Willi syndrome (PWS) is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. In later infancy or early childhood, affected children develop an extreme appetite, which leads to overeating and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prader-Willi syndrome ? ### Response: What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or ""expressed"") on the copy that is inherited from a person's father (the paternal copy). " "Below is an instruction from Human. Write a response. ### Instruction: Is Prader-Willi syndrome inherited ? ### Response: Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental disomy. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prader-Willi syndrome ? ### Response: How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Prader-Willi syndrome ? ### Response: How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis follicularis atrichia photophobia syndrome ? ### Response: What are the signs and symptoms of Ichthyosis follicularis atrichia photophobia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis follicularis atrichia photophobia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ? ### Response: What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dehydrated hereditary stomatocytosis ? ### Response: What are the signs and symptoms of Dehydrated hereditary stomatocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Dehydrated hereditary stomatocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rienhoff syndrome ? ### Response: What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ? ### Response: What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia microtia fetal akinesia ? ### Response: What are the signs and symptoms of Microphthalmia microtia fetal akinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia microtia fetal akinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Methylmalonic acidemia with homocystinuria ? ### Response: What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Papillon Lefevre syndrome ? ### Response: What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebral palsy ataxic ? ### Response: What are the signs and symptoms of Cerebral palsy ataxic? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral palsy ataxic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bartter syndrome type 3 ? ### Response: What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydrocephalus obesity hypogonadism ? ### Response: What are the signs and symptoms of Hydrocephalus obesity hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus obesity hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Keratoconus ? ### Response: Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratoconus ? ### Response: What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Keratoconus ? ### Response: What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 5q14.3 microdeletion syndrome ? ### Response: 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 5q14.3 microdeletion syndrome ? ### Response: What are the signs and symptoms of 5q14.3 microdeletion syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q14.3 microdeletion syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple system atrophy ? ### Response: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple system atrophy ? ### Response: What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amniotic band syndrome ? ### Response: Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amniotic band syndrome ? ### Response: What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and require immediate surgical care. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amniotic band syndrome ? ### Response: What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and require immediate surgical care. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amniotic band syndrome ? ### Response: How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more often diagnosed by the results of the fusion, such as missing or deformed limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amniotic band syndrome ? ### Response: How might amniotic band syndrome be treated? Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Essential tremor ? ### Response: Essential tremor is the most common movement disorder. It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Essential tremor ? ### Response: What are the signs and symptoms of Essential tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Essential tremor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Essential tremor ? ### Response: What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an individual's risk of developing this complex condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Essential tremor inherited ? ### Response: Is essential tremor inherited? About half of all cases of essential tremor appear to occur because of a genetic mutation. This is referred to as familial tremor. In these cases, essential tremor appears to be passed through generations in families, but the inheritance pattern varies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Essential tremor ? ### Response: How might essential tremor be treated? Treatment for essential tremor may not be necessary unless the tremors interfere with daily activities or cause embarrassment. Although there is no definitive cure for essential tremor, medicines may help relieve symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erythromelalgia ? ### Response: Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Erythromelalgia ? ### Response: What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Erythromelalgia ? ### Response: What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Erythromelalgia ? ### Response: How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Erythromelalgia ? ### Response: What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klebsiella infection ? ### Response: Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria, including pneumonia; bloodstream infections; wound or surgical site infections; and meningitis. Healthy people usually do not get Klebsiella infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Klebsiella infection ? ### Response: What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in severe cases. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Klebsiella infection ? ### Response: What causes Klebsiella infections? Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria. These bacteria are usually found in human intestines where they do not cause infections. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Klebsiella infection ? ### Response: How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klebsiella infection ? ### Response: How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibility testing) to determine which antibiotics may be used to treat the Klebsiella infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 49,XXXXX syndrome ? ### Response: What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diffuse gastric cancer ? ### Response: Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diffuse gastric cancer ? ### Response: What are the signs and symptoms of Diffuse gastric cancer? Signs and symptoms of gastric cancer may include indigestion, stomach discomfort, bloating, mild nausea, loss of appetite, and heartburn. In more advanced stages of gastric cancer signs and symptoms may include bloody stool, vomiting, weight loss, stomach pain, jaundice, ascites (fluid in the abdomen), and trouble swallowing. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Diffuse gastric cancer ? ### Response: Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thought that regular drinking may increase the risk in smokers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Diffuse gastric cancer inherited ? ### Response: Can diffuse gastric cancer be inherited? Diffuse gastric cancer can be inherited or can happen sporadically in a family. Sporadic means that the cancer occurred randomly for the first time in a individual and was not inherited from a parent. Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hirschsprung disease type d brachydactyly ? ### Response: What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 31 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital hepatic fibrosis ? ### Response: Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital hepatic fibrosis ? ### Response: What causes congenital hepatic fibrosis? Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thoraco abdominal enteric duplication ? ### Response: What are the signs and symptoms of Thoraco abdominal enteric duplication? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoraco abdominal enteric duplication. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trisomy 18 ? ### Response: Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trisomy 18 ? ### Response: What are the signs and symptoms of Trisomy 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Trisomy 18 ? ### Response: What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Trisomy 18 inherited ? ### Response: Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adiposis dolorosa ? ### Response: Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adiposis dolorosa ? ### Response: What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adiposis dolorosa ? ### Response: What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. " "Below is an instruction from Human. Write a response. ### Instruction: Is Adiposis dolorosa inherited ? ### Response: Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Adiposis dolorosa ? ### Response: Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adiposis dolorosa ? ### Response: How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ? ### Response: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Andermann syndrome ? ### Response: Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Andermann syndrome ? ### Response: What are the signs and symptoms of Andermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Andermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial HDL deficiency ? ### Response: What are the signs and symptoms of Familial HDL deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial HDL deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Westphal disease ? ### Response: What are the signs and symptoms of Westphal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Westphal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of N syndrome ? ### Response: What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial genetic disorders ? ### Response: Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial genetic disorders ? ### Response: What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mitochondrial genetic disorders ? ### Response: What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (known as nuclear DNA). " "Below is an instruction from Human. Write a response. ### Instruction: Is Mitochondrial genetic disorders inherited ? ### Response: Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mitochondrial genetic disorders ? ### Response: How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial genetic disorders ? ### Response: How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bobble-head doll syndrome ? ### Response: Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa simplex, Ogna type ? ### Response: What are the signs and symptoms of Epidermolysis bullosa simplex, Ogna type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Ogna type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratosis, seborrheic ? ### Response: What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy, type 2G ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dandy-Walker malformation with facial hemangioma ? ### Response: What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pineocytoma ? ### Response: A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pineocytoma ? ### Response: How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ? ### Response: What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of FG syndrome ? ### Response: What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for FG syndrome ? ### Response: How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lissencephaly 1 ? ### Response: What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteoarthropathy of fingers familial ? ### Response: What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrosarcoma ? ### Response: What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Waardenburg syndrome type 2 ? ### Response: Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Waardenburg syndrome type 2 ? ### Response: What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Waardenburg syndrome type 2 ? ### Response: How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family. In some subtypes, the genetic cause is a known gene. In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myasthenia gravis, limb-girdle ? ### Response: What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wilson disease ? ### Response: Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wilson disease ? ### Response: What are the signs and symptoms of Wilson disease? Wilson disease can affect many different systems of the body. Affected people often develop signs and symptoms of chronic liver disease in their teenaged years or early twenties. These features may include jaundice; abnormal fluid retention which can lead to swelling of the legs and/or abdomen; weight loss; nausea and vomiting; and/or fatigue. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Wilson disease ? ### Response: What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wilson disease inherited ? ### Response: Is Wilson disease inherited? Wilson disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wilson disease ? ### Response: How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism ? ### Response: What are the signs and symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, macrocephaly, short stature and craniofacial dysmorphism. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Townes-Brocks syndrome ? ### Response: Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Townes-Brocks syndrome ? ### Response: What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Townes-Brocks syndrome ? ### Response: What causes Townes-Brocks syndrome? Townes-Brocks syndrome is caused by mutations in the SALL1 gene. This gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Townes-Brocks syndrome inherited ? ### Response: Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Townes-Brocks syndrome ? ### Response: Is there treatment for Townes-Brocks syndrome? Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stage renal disease (ESRD); and early treatment of hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cronkhite-Canada disease ? ### Response: Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cronkhite-Canada disease ? ### Response: What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyknoachondrogenesis ? ### Response: What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prosthetic joint infection ? ### Response: A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chordoma ? ### Response: A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chordoma ? ### Response: What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chordoma ? ### Response: How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 6 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital pulmonary lymphangiectasia ? ### Response: Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a network of tubular channels that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital pulmonary lymphangiectasia ? ### Response: What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hidradenocarcinoma ? ### Response: Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hidradenocarcinoma ? ### Response: How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of STAR syndrome ? ### Response: What are the signs and symptoms of STAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for STAR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular fibrosis multifocal obstructed vessels ? ### Response: What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalocele ? ### Response: Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Granuloma annulare ? ### Response: Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Granuloma annulare ? ### Response: What symptoms are associated with granuloma annulare? People with this condition usually notice a ring of small, firm bumps (papules) over the backs of the forearms, hands or feet. Occasionally, multiple rings may be found. Rarely, granuloma annulare may appear as a firm nodule under the skin of the arms or legs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Granuloma annulare ? ### Response: What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepatitis C, and herpes zoster. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Granuloma annulare ? ### Response: How might granuloma annulare be treated? Granuloma annulare is difficult to treat and there are a limited number of clinical trials to reliably inform patients and physicians of the treatment options. Fortunately, most lesions of granuloma annulare disappear with no treatment within two years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cholesteatoma ? ### Response: Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cholesteatoma ? ### Response: What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cholesteatoma ? ### Response: What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cholesteatoma ? ### Response: How might cholesteatoma be treated? An examination by an otolaryngologist - a doctor who specializes in head and neck conditions - can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Succinic semialdehyde dehydrogenase deficiency ? ### Response: Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Succinic semialdehyde dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Succinic semialdehyde dehydrogenase deficiency? People with succinic semialdehyde dehydrogenase deficiency (SSADH) typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Succinic semialdehyde dehydrogenase deficiency ? ### Response: What causes succinic semialdehyde dehydrogenase deficiency? Succinic semialdehyde dehydrogenase deficiency (SSADH) is caused by mutations in the ALDH5A1 gene. This gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme which is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). " "Below is an instruction from Human. Write a response. ### Instruction: Is Succinic semialdehyde dehydrogenase deficiency inherited ? ### Response: How is succinic semialdehyde dehydrogenase deficiency inherited? Succinic semialdehyde dehydrogenase deficiency (SSADH) is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Succinic semialdehyde dehydrogenase deficiency ? ### Response: How is succinic semialdehyde dehydrogenase deficiency diagnosed? The diagnosis of succinic semialdehyde dehydrogenase (SSADH) deficiency is based upon a thorough clinical exam, the identification of features consistent with the condition, and a variety of specialized tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Succinic semialdehyde dehydrogenase deficiency ? ### Response: How might succinic semialdehyde dehydrogenase deficiency be treated? Treatment of succinic semialdehyde dehydrogenase deficiency (SSADH) is generally symptomatic and typically focuses on the treatment of seizures and neurobehavioral disturbances. Antiepileptic drugs (AEDs) that have proven to be effective in treating the seizures associated with this condition include carbamazepine and lamotrigine (LTG). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculo-cerebral dysplasia ? ### Response: What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amish lethal microcephaly ? ### Response: What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Young syndrome ? ### Response: Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent levels of sperm in semen) . " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Young syndrome ? ### Response: What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Benign hereditary chorea ? ### Response: Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Benign hereditary chorea ? ### Response: What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemorrhagic shock and encephalopathy syndrome ? ### Response: Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also occur in older children. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemorrhagic shock and encephalopathy syndrome ? ### Response: What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the development of this condition, including infection, exposure to toxins in the environment, and overwrapping of infants with a fever. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hemiplegic migraine type 1 ? ### Response: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hemiplegic migraine type 1 ? ### Response: What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial hemiplegic migraine type 1 ? ### Response: How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marie Unna congenital hypotrichosis ? ### Response: What are the signs and symptoms of Marie Unna congenital hypotrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Marie Unna congenital hypotrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosiform erythroderma, corneal involvement, deafness ? ### Response: What are the signs and symptoms of Ichthyosiform erythroderma, corneal involvement, deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosiform erythroderma, corneal involvement, deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lichen planus pigmentosus ? ### Response: Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lichen planus pigmentosus ? ### Response: What are the signs and symptoms of lichen planus pigmentosus? Lichen planus pigmentosus (LPP), a rare form of lichen planus, is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lichen planus pigmentosus ? ### Response: What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lichen planus pigmentosus ? ### Response: What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lichen planus pigmentosus ? ### Response: How might lichen planus pigmentosus be treated? Treatment for lichen planus pigmentosus is generally symptomatic and may include: Topical (applied to the skin) corticosteroids Topical calcineurin inhibitors (medications that are typically used to treat ecze " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary sensory and autonomic neuropathy type V ? ### Response: Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? ### Response: What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dystrophic epidermolysis bullosa ? ### Response: Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystrophic epidermolysis bullosa ? ### Response: What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nicolaides-Baraitser syndrome ? ### Response: Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nicolaides-Baraitser syndrome ? ### Response: What are the signs and symptoms of Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called interphalangeal joints). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nicolaides-Baraitser syndrome ? ### Response: What causes Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is caused by mutations in the SMARCA2 gene, which is located on the small arm of chromosome 9. All mutations that have been identified in affected people have been either missense mutations or in-frame deletions. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nicolaides-Baraitser syndrome inherited ? ### Response: How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cramp-fasciculation syndrome ? ### Response: Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cramp-fasciculation syndrome ? ### Response: What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or masssage. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cramp-fasciculation syndrome ? ### Response: What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some ca " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cramp-fasciculation syndrome ? ### Response: How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cramp-fasciculation syndrome ? ### Response: How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myeloperoxidase deficiency ? ### Response: What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital alopecia X-linked ? ### Response: What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Isobutyryl-CoA dehydrogenase deficiency ? ### Response: Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isobutyryl-CoA dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Isobutyryl-CoA dehydrogenase deficiency? Infants with IBD deficiency usually appear healthy at birth. The signs and symptoms of IBD deficiency may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Isobutyryl-CoA dehydrogenase deficiency ? ### Response: What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)? IBD deficiency is caused by mutations in the ACAD8 gene. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Isobutyryl-CoA dehydrogenase deficiency inherited ? ### Response: How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited? IBD deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Isobutyryl-CoA dehydrogenase deficiency ? ### Response: How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) treated? There is no standard treatment protocol for IBD deficiency. Infants diagnosed through newborn screening are encouraged to work with a metabolic disease specialist and a dietician experienced in metabolic disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopoikilosis and dacryocystitis ? ### Response: What are the signs and symptoms of Osteopoikilosis and dacryocystitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopoikilosis and dacryocystitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Focal palmoplantar and gingival keratoderma ? ### Response: What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 1 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fingerprint body myopathy ? ### Response: What are the signs and symptoms of Fingerprint body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Homocarnosinosis ? ### Response: What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemangiomatosis, familial pulmonary capillary ? ### Response: What are the signs and symptoms of Hemangiomatosis, familial pulmonary capillary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiomatosis, familial pulmonary capillary. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Paraneoplastic cerebellar degeneration ? ### Response: Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinoschisis of Fovea ? ### Response: What are the signs and symptoms of Retinoschisis of Fovea? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis of Fovea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Snowflake vitreoretinal degeneration ? ### Response: What are the signs and symptoms of Snowflake vitreoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duchenne muscular dystrophy ? ### Response: Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duchenne muscular dystrophy ? ### Response: What are the signs and symptoms of Duchenne muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Duchenne muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Duchenne muscular dystrophy inherited ? ### Response: How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Duchenne muscular dystrophy ? ### Response: How might Duchenne muscular dystrophy be treated? There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypokalemic periodic paralysis ? ### Response: Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypokalemic periodic paralysis ? ### Response: What are the signs and symptoms of Hypokalemic periodic paralysis? Hypokalemic periodic paralysis involves attacks of muscle weakness or loss of muscle movement (paralysis) that come and go. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypokalemic periodic paralysis ? ### Response: What causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). " "Below is an instruction from Human. Write a response. ### Instruction: Is Hypokalemic periodic paralysis inherited ? ### Response: How is hypokalemic periodic paralysis inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypokalemic periodic paralysis ? ### Response: How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potential causes, including myotonia, hyperthyroidism, and arrhythmia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brittle cornea syndrome ? ### Response: What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Syndromic microphthalmia, type 3 ? ### Response: Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syndromic microphthalmia, type 3 ? ### Response: What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy type 2E ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2E. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Irons Bhan syndrome ? ### Response: What are the signs and symptoms of Irons Bhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Irons Bhan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary leiomyomatosis and renal cell cancer ? ### Response: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary leiomyomatosis and renal cell cancer ? ### Response: What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer? Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and extremities, and occasionally on the face. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hereditary leiomyomatosis and renal cell cancer ? ### Response: What causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy (the citric acid cycle, or Krebs cycle). " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary leiomyomatosis and renal cell cancer inherited ? ### Response: How is hereditary leiomyomatosis and renal cell cancer inherited? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Merkel cell carcinoma ? ### Response: Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Merkel cell carcinoma ? ### Response: What causes Merkel cell carcinoma? The exact underlying cause of Merkel cell carcinoma (MCC) is unknown, but several risk factors have been associated with the development of MCC. Having one or more risk factors does not mean that a person will develop MCC; most individuals with risk factors will not develop MCC. " "Below is an instruction from Human. Write a response. ### Instruction: Is Merkel cell carcinoma inherited ? ### Response: Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gigantomastia ? ### Response: Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gigantomastia ? ### Response: What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction procedure or mastectomy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immunoglobulin A deficiency 2 ? ### Response: What are the signs and symptoms of Immunoglobulin A deficiency 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunoglobulin A deficiency 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hunter Rudd Hoffmann syndrome ? ### Response: What are the signs and symptoms of Hunter Rudd Hoffmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hunter Rudd Hoffmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Van Bogaert-Hozay syndrome ? ### Response: What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Valinemia ? ### Response: Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Valinemia ? ### Response: What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and/or coma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Valinemia ? ### Response: How might valinemia be treated? Due to the rarity of valinemia, information about treatment in the medical literature is very limited. A diet low in valine introduced during early infancy is thought to improve symptoms of the condition and lower valine concentrations in the blood to normal levels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphocytic infiltrate of Jessner ? ### Response: Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphocytic infiltrate of Jessner ? ### Response: What are the signs and symptoms of Lymphocytic infiltrate of Jessner? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic infiltrate of Jessner. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Symphalangism with multiple anomalies of hands and feet ? ### Response: What are the signs and symptoms of Symphalangism with multiple anomalies of hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism with multiple anomalies of hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brooke-Spiegler syndrome ? ### Response: Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brooke-Spiegler syndrome ? ### Response: What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Norum disease ? ### Response: Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Norum disease ? ### Response: What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Norum disease ? ### Response: What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes (red blood cells). " "Below is an instruction from Human. Write a response. ### Instruction: Is Norum disease inherited ? ### Response: How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Norum disease ? ### Response: How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Exstrophy of the bladder ? ### Response: What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of LEOPARD syndrome ? ### Response: What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypercholesterolemia, autosomal dominant ? ### Response: What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple familial trichoepithelioma ? ### Response: Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple familial trichoepithelioma ? ### Response: What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple familial trichoepithelioma ? ### Response: What causes multiple familial trichoepithelioma? Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Multiple familial trichoepithelioma inherited ? ### Response: How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multiple familial trichoepithelioma ? ### Response: How is multiple familial trichoepithelioma diagnosed? Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patients family history, and the appearance of the trichoepithelioma cells under a microscope (histology). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple familial trichoepithelioma ? ### Response: How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 3 ? ### Response: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dominant dystrophic epidermolysis bullosa ? ### Response: Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dominant dystrophic epidermolysis bullosa ? ### Response: What are the signs and symptoms of Dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is consivered to be a more mild form of dystrophic epidermolysis bullosa (DEB). Blistering is often limited to the hands, feet, knees, and elbows. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dominant dystrophic epidermolysis bullosa ? ### Response: What causes dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dominant dystrophic epidermolysis bullosa inherited ? ### Response: How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dominant dystrophic epidermolysis bullosa ? ### Response: How might dominant dystrophic epidermolysis bullosa be treated? There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB). Treatment generally focuses on managing signs and symptoms. For some individuals, such as those that have a mild form of dominant dystrophic epidermolysis bullosa (DDEB), dystrophic nails may be the only manifestation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Episodic ataxia ? ### Response: Episodic ataxia refers to a group of related conditions that affect the nervous system and cause problems with movement. It is characterized by episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cockayne syndrome type II ? ### Response: Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cockayne syndrome type II ? ### Response: What are the signs and symptoms of Cockayne syndrome type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 14 ? ### Response: What are the signs and symptoms of Spastic paraplegia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? ### Response: 2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency ? ### Response: What are the signs and symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methylbutyryl-CoA dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 3 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Northern epilepsy ? ### Response: Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Northern epilepsy ? ### Response: What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bartter syndrome antenatal type 1 ? ### Response: What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Levator syndrome ? ### Response: Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Waardenburg syndrome type 3 ? ### Response: What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) BRCA2 hereditary breast and ovarian cancer syndrome ? ### Response: BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of BRCA2 hereditary breast and ovarian cancer syndrome ? ### Response: What are the signs and symptoms of BRCA2 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA2 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mikulicz disease ? ### Response: Mikulicz disease is a chronic condition characterized by the abnormal enlargement of glands in the head and neck, including those near the ears (parotids), around the eyes (lacrimal), and around the mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Achondroplasia ? ### Response: Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Achondroplasia ? ### Response: What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. " "Below is an instruction from Human. Write a response. ### Instruction: Is Achondroplasia inherited ? ### Response: Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mutation). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Achondroplasia ? ### Response: How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs health care provider(s). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia X-linked type 3 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia X-linked type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia X-linked type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Waardenburg syndrome type 2A ? ### Response: What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lucey-Driscoll syndrome ? ### Response: Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lucey-Driscoll syndrome ? ### Response: What are the signs and symptoms of Lucey-Driscoll syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lucey-Driscoll syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lucey-Driscoll syndrome ? ### Response: What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin ""conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance ? ### Response: What are the signs and symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GOSR2-related progressive myoclonus ataxia ? ### Response: What are the signs and symptoms of GOSR2-related progressive myoclonus ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for GOSR2-related progressive myoclonus ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Macrothrombocytopenia progressive deafness ? ### Response: What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kaposi sarcoma ? ### Response: Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kaposi sarcoma ? ### Response: What are the signs and symptoms of Kaposi sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaposi sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Combined oxidative phosphorylation deficiency 16 ? ### Response: Combined oxidative phosphorylation deficiency 16, also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging (MRI), kidney insufficiency and neurological disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Combined oxidative phosphorylation deficiency 16 ? ### Response: What are the signs and symptoms of Combined oxidative phosphorylation deficiency 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined oxidative phosphorylation deficiency 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lambert Eaton myasthenic syndrome ? ### Response: Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lambert Eaton myasthenic syndrome ? ### Response: What are the symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lambert Eaton myasthenic syndrome ? ### Response: What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the bodys attempt to fight the cancer inadvertently causes it to attack nerve fiber endings, especially the voltage-gated calcium channels found there. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pachydermoperiostosis ? ### Response: Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pachydermoperiostosis ? ### Response: What are the signs and symptoms of Pachydermoperiostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachydermoperiostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pachydermoperiostosis ? ### Response: How might pachydermoperiostosis be treated? Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mondor disease ? ### Response: Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Torg Winchester syndrome ? ### Response: What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary diffuse leukoencephalopathy with spheroids ? ### Response: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hereditary diffuse leukoencephalopathy with spheroids ? ### Response: What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary diffuse leukoencephalopathy with spheroids inherited ? ### Response: How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) N-acetylglutamate synthetase deficiency ? ### Response: N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of N-acetylglutamate synthetase deficiency ? ### Response: What are the signs and symptoms of N-acetylglutamate synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for N-acetylglutamate synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive familial heart block type 1A ? ### Response: What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 4 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 51 ? ### Response: What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ? ### Response: What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Insulin-like growth factor I deficiency ? ### Response: What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sakati syndrome ? ### Response: What are the signs and symptoms of Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glomus tympanicum tumor ? ### Response: What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nuclear Gene-Encoded Leigh Syndrome ? ### Response: Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Growth hormone insensitivity with immunodeficiency ? ### Response: What are the signs and symptoms of Growth hormone insensitivity with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Growth hormone insensitivity with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Infantile myofibromatosis ? ### Response: What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cobb syndrome ? ### Response: What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microcephaly ? ### Response: Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? ### Response: What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 17q23.1q23.2 microdeletion syndrome ? ### Response: What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 17q23.1q23.2 microdeletion syndrome ? ### Response: What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperprolinemia type 2 ? ### Response: Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperprolinemia type 2 ? ### Response: What are the signs and symptoms of Hyperprolinemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperprolinemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hyperprolinemia type 2 ? ### Response: How might hyperprolinemia type 2 be treated? There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Krabbe disease atypical due to Saposin A deficiency ? ### Response: What are the signs and symptoms of Krabbe disease atypical due to Saposin A deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Krabbe disease atypical due to Saposin A deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydrops fetalis ? ### Response: Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydrops fetalis ? ### Response: What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Conotruncal heart malformations ? ### Response: What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ? ### Response: What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Unverricht-Lundborg disease ? ### Response: Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Unverricht-Lundborg disease ? ### Response: What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stickler syndrome type 1 ? ### Response: Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stickler syndrome type 1 ? ### Response: What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pemphigus vulgaris ? ### Response: Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pemphigus vulgaris ? ### Response: What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ? ### Response: What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bixler Christian Gorlin syndrome ? ### Response: What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Symmetrical thalamic calcifications ? ### Response: What are the signs and symptoms of Symmetrical thalamic calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Symmetrical thalamic calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laing distal myopathy ? ### Response: Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laing distal myopathy ? ### Response: What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inflammatory breast cancer ? ### Response: Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteogenesis imperfecta type I ? ### Response: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta type I ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immunodeficiency with hyper IgM type 5 ? ### Response: What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Turner syndrome ? ### Response: Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a ""webbed"" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Turner syndrome ? ### Response: What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Turner syndrome ? ### Response: What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). " "Below is an instruction from Human. Write a response. ### Instruction: Is Turner syndrome inherited ? ### Response: Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ? ### Response: What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ? ### Response: What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pelizaeus-Merzbacher disease ? ### Response: Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pelizaeus-Merzbacher disease ? ### Response: What are the signs and symptoms of Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is divided into classic and severe (connatal) types. Although these two types differ in severity, their symptoms can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pelizaeus-Merzbacher disease ? ### Response: What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pelizaeus-Merzbacher disease ? ### Response: What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystelephalangy ? ### Response: What are the signs and symptoms of Dystelephalangy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystelephalangy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primrose syndrome ? ### Response: Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primrose syndrome ? ### Response: What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lateral meningocele syndrome ? ### Response: What are the signs and symptoms of Lateral meningocele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lateral meningocele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of NADH cytochrome B5 reductase deficiency ? ### Response: What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lethal congenital contracture syndrome 1 ? ### Response: What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ribbing disease ? ### Response: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone. Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ribbing disease ? ### Response: What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gastric lymphoma ? ### Response: What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Heparin-induced thrombocytopenia ? ### Response: Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? ### Response: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? ### Response: How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary to continue treatment that suppresses the immune system. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lentigo maligna melanoma ? ### Response: Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Malignant hyperthermia susceptibility type 3 ? ### Response: What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? ### Response: Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? ### Response: Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? ### Response: Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Macular dystrophy, atypical vitelliform ? ### Response: What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tukel syndrome ? ### Response: What are the signs and symptoms of Tukel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leiomyoma of vulva and esophagus ? ### Response: What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) KBG syndrome ? ### Response: KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of KBG syndrome ? ### Response: What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cockayne syndrome type III ? ### Response: Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cockayne syndrome type III ? ### Response: What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MTHFR gene mutation ? ### Response: MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MTHFR gene mutation ? ### Response: What are the signs and symptoms of MTHFR gene mutations? People with MTHFR gene mutations may develop elevated levels of homocysteine in their blood (homocysteinemia) or urine (homocystinuria). Risks for health effects vary depending on the levels of homocysteine. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose MTHFR gene mutation ? ### Response: Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MTHFR gene mutation ? ### Response: How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lambdoid synostosis ? ### Response: What are the signs and symptoms of Lambdoid synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lambdoid synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dementia familial British ? ### Response: What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ? ### Response: What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile primary lateral sclerosis ? ### Response: Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile primary lateral sclerosis ? ### Response: What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 15 to 20 years. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile primary lateral sclerosis ? ### Response: What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Juvenile primary lateral sclerosis inherited ? ### Response: How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sarcoidosis ? ### Response: Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sarcoidosis ? ### Response: What are the signs and symptoms of Sarcoidosis? Many people who have sarcoidosis don't have symptoms. Others may feel like they are coming down with the flu or a respiratory infection. While almost any body part or system can be affected, the lungs are most commonly involved. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sarcoidosis ? ### Response: What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sarcoidosis ? ### Response: What treatment is available for sarcoidosis? The treatment of sarcoidosis depends on : the symptoms present the severity of the symptoms whether any vital organs (e.g., your lungs, eyes, heart, or brain) are affected how the organ is affected. Some organs must be treated, regardless of your symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dwarfism ? ### Response: Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10"" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dwarfism ? ### Response: How is dwarfism diagnosed? Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucopolysaccharidosis type IIIB ? ### Response: Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type IIIB ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charlie M syndrome ? ### Response: What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ablepharon macrostomia syndrome ? ### Response: What are the signs and symptoms of Ablepharon macrostomia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ablepharon macrostomia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nievergelt syndrome ? ### Response: What are the signs and symptoms of Nievergelt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nievergelt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microduplication Xp11.22-p11.23 syndrome ? ### Response: What are the signs and symptoms of Microduplication Xp11.22-p11.23 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microduplication Xp11.22-p11.23 syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Andersen-Tawil syndrome ? ### Response: Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Andersen-Tawil syndrome ? ### Response: What are the signs and symptoms of Andersen-Tawil syndrome? Anderson-Tawil syndrome causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Andersen-Tawil syndrome ? ### Response: Is genetic testing available for Andersen-Tawil syndrome? Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anencephaly ? ### Response: Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anencephaly ? ### Response: What are the signs and symptoms of Anencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Anencephaly ? ### Response: What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. " "Below is an instruction from Human. Write a response. ### Instruction: Is Anencephaly inherited ? ### Response: Is anencephaly inherited? Most cases of anencephaly are sporadic, which means they occur in people with no family history of anencephaly or other neural tube defects (NTDs). In some cases, it may be associated with a chromosome abnormality, a severe malformation syndrome, or disruption of the amniotic membrane. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune gastrointestinal dysmotility ? ### Response: Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ? ### Response: What are the signs and symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked visceral heterotaxy 1 ? ### Response: X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked visceral heterotaxy 1 ? ### Response: What are the signs and symptoms of X-linked visceral heterotaxy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked visceral heterotaxy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? ### Response: What are the signs and symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial Membrane Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ? ### Response: What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple endocrine neoplasia type 2B ? ### Response: What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 12 ? ### Response: What are the signs and symptoms of Glycogen storage disease type 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) D-2-alpha hydroxyglutaric aciduria ? ### Response: D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of D-2-alpha hydroxyglutaric aciduria ? ### Response: What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ? ### Response: What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Malaria ? ### Response: Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Malaria ? ### Response: What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glioblastoma ? ### Response: Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glioblastoma ? ### Response: What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory " "Below is an instruction from Human. Write a response. ### Instruction: What causes Glioblastoma ? ### Response: What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of the condition that are all caused by changes (mutations) in a specific gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Glioblastoma inherited ? ### Response: Is glioblastoma inherited? Most glioblastomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Glioblastoma ? ### Response: Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblastoma such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Glioblastoma ? ### Response: How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of I cell disease ? ### Response: What are the signs and symptoms of I cell disease? The Human Phenotype Ontology provides the following list of signs and symptoms for I cell disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Achondrogenesis type 2 ? ### Response: Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achondrogenesis type 2 ? ### Response: What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemolytic uremic syndrome, atypical, childhood ? ### Response: Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 19 ? ### Response: What are the signs and symptoms of Spastic paraplegia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 19. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medullary cystic kidney disease ? ### Response: Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Medullary cystic kidney disease ? ### Response: What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Medullary cystic kidney disease ? ### Response: What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Medullary cystic kidney disease inherited ? ### Response: How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary spherocytosis ? ### Response: Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary spherocytosis ? ### Response: What are the signs and symptoms of Hereditary spherocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spherocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hereditary spherocytosis ? ### Response: What causes hereditary spherocytosis? Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary spherocytosis inherited ? ### Response: How is hereditary spherocytosis inherited? About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occur for the first time in the affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Actinomycosis ? ### Response: Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyschromatosis universalis hereditaria ? ### Response: What are the signs and symptoms of Dyschromatosis universalis hereditaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyschromatosis universalis hereditaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ehlers-Danlos syndrome with periventricular heterotopia ? ### Response: What are the signs and symptoms of Ehlers-Danlos syndrome with periventricular heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome with periventricular heterotopia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital generalized lipodystrophy type 2 ? ### Response: What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sea-Blue histiocytosis ? ### Response: What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parapsoriasis ? ### Response: Parapsoriasis describes a group of skin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mesomelic dysplasia Savarirayan type ? ### Response: What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhizomelic dysplasia Patterson Lowry type ? ### Response: What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital muscular dystrophy ? ### Response: Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chandler's syndrome ? ### Response: Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chandler's syndrome ? ### Response: What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition. Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surface of the cornea, fails to pump the aqueous humor from the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chandler's syndrome ? ### Response: What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition. Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surface of the cornea, fails to pump the aqueous humor from the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chandler's syndrome ? ### Response: How might Chandler's syndrome be treated? While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery. Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more efficiently and/or decreasing the amount of fluid made by the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypomagnesemia 2, renal ? ### Response: What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucopolysaccharidosis type I ? ### Response: Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type I ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type I? The signs and symptoms of MPS I are not present at birth, but they begin to appear during childhood. People with severe MPS I develop the features of this condition earlier than those with attenuated MPS I. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mucopolysaccharidosis type I ? ### Response: What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mucopolysaccharidosis type I ? ### Response: What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mucopolysaccharidosis type I ? ### Response: What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multifocal choroiditis ? ### Response: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multifocal choroiditis ? ### Response: What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multifocal choroiditis ? ### Response: How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multifocal choroiditis ? ### Response: How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 1B ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of COASY Protein-Associated Neurodegeneration ? ### Response: What are the signs and symptoms of COASY Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for COASY Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal tubular acidosis with deafness ? ### Response: Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal tubular acidosis with deafness ? ### Response: What are the signs and symptoms of Renal tubular acidosis with deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis with deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ring chromosome 10 ? ### Response: What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crandall syndrome ? ### Response: What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proximal symphalangism ? ### Response: Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proximal symphalangism ? ### Response: What are the signs and symptoms of Proximal symphalangism? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal symphalangism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Proximal symphalangism ? ### Response: Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progeria ? ### Response: Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progeria ? ### Response: What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Progeria ? ### Response: What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lupus nephritis ? ### Response: Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypothalamic hamartomas ? ### Response: What are the signs and symptoms of Hypothalamic hamartomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypothalamic hamartomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glutamine deficiency, congenital ? ### Response: What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukonychia totalis ? ### Response: Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukonychia totalis ? ### Response: What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Leukonychia totalis ? ### Response: What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is Leukonychia totalis inherited ? ### Response: Is leukonychia totalis inherited? Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukonychia totalis ? ### Response: How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tremors, nystagmus and duodenal ulcers ? ### Response: What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chorea-acanthocytosis ? ### Response: Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chorea-acanthocytosis ? ### Response: What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). " "Below is an instruction from Human. Write a response. ### Instruction: Is Chorea-acanthocytosis inherited ? ### Response: How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrokeratoelastoidosis of Costa ? ### Response: What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, dystonia, and cerebral hypomyelination ? ### Response: What are the signs and symptoms of Deafness, dystonia, and cerebral hypomyelination ? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, dystonia, and cerebral hypomyelination . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome 6 ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome 6 ? ### Response: What are the signs and symptoms of Noonan syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome 6 ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Distal myopathy with vocal cord weakness ? ### Response: What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 1q41-q42 deletion syndrome ? ### Response: Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 1q41-q42 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary hyperparathyroidism ? ### Response: Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kuster Majewski Hammerstein syndrome ? ### Response: What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aplasia cutis congenita of limbs recessive ? ### Response: What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Esthesioneuroblastoma ? ### Response: Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Esthesioneuroblastoma ? ### Response: What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Esthesioneuroblastoma ? ### Response: What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Esthesioneuroblastoma ? ### Response: What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Esthesioneuroblastoma ? ### Response: How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rowley-Rosenberg syndrome ? ### Response: What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal tubular acidosis, distal, autosomal dominant ? ### Response: What are the signs and symptoms of Renal tubular acidosis, distal, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Platelet storage pool deficiency ? ### Response: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Platelet storage pool deficiency ? ### Response: What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenotype Ontology provides the following list of signs and symptoms for Platelet storage pool deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Platelet storage pool deficiency ? ### Response: What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: Is Platelet storage pool deficiency inherited ? ### Response: Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Platelet storage pool deficiency ? ### Response: How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Platelet storage pool deficiency ? ### Response: How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypoplastic right heart syndrome ? ### Response: Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Goldenhar disease ? ### Response: Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Goldenhar disease ? ### Response: What are the signs and symptoms of Goldenhar disease? The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Methylcobalamin deficiency cbl G type ? ### Response: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Methylcobalamin deficiency cbl G type ? ### Response: What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudoangiomatous stromal hyperplasia ? ### Response: Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for other non-cancerous or cancerous lesions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pseudoangiomatous stromal hyperplasia ? ### Response: Is treatment available for pseudoangiomatous stromal hyperplasia (PASH)? Surgical removal of the PASH lesions has been performed in some individuals. A wide margin around the mass may be removed to prevent recurrence. Although PASH lesions often grow over time and may recur, they are neither associated with malignancy (cancer) nor considered to be premalignant (pre-cancerous). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukoencephalopathy with vanishing white matter ? ### Response: Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukoencephalopathy with vanishing white matter ? ### Response: What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Leukoencephalopathy with vanishing white matter ? ### Response: What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. " "Below is an instruction from Human. Write a response. ### Instruction: Is Leukoencephalopathy with vanishing white matter inherited ? ### Response: How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukoencephalopathy with vanishing white matter ? ### Response: How might leukoencephalopathy with vanishing white matter be treated? Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications for seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrodysplasia, Grebe type ? ### Response: What are the signs and symptoms of Chondrodysplasia, Grebe type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia, Grebe type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laurence Prosser Rocker syndrome ? ### Response: What are the signs and symptoms of Laurence Prosser Rocker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurence Prosser Rocker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frontonasal dysplasia ? ### Response: Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontonasal dysplasia ? ### Response: What are the signs and symptoms of Frontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudohypoparathyroidism ? ### Response: Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Patterson pseudoleprechaunism syndrome ? ### Response: What are the signs and symptoms of Patterson pseudoleprechaunism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterson pseudoleprechaunism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Phaeohyphomycosis ? ### Response: Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transposition of the great arteries ? ### Response: Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transposition of the great arteries ? ### Response: What are the signs and symptoms of Transposition of the great arteries? The Human Phenotype Ontology provides the following list of signs and symptoms for Transposition of the great arteries. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Transposition of the great arteries ? ### Response: What causes transposition of the great arteries (TGA)? The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pfeiffer Mayer syndrome ? ### Response: What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 6q deletion ? ### Response: Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pituitary hormone deficiency, combined 2 ? ### Response: What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Teebi Kaurah syndrome ? ### Response: What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ? ### Response: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bangstad syndrome ? ### Response: What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune polyglandular syndrome type 1 ? ### Response: Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autoimmune polyglandular syndrome type 1 ? ### Response: What are the signs and symptoms of Autoimmune polyglandular syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune polyglandular syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bile acid synthesis defect, congenital, 4 ? ### Response: What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial prostate cancer ? ### Response: Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial prostate cancer ? ### Response: What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glomerulopathy with fibronectin deposits 1 ? ### Response: What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Absence of Tibia ? ### Response: Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Absence of Tibia ? ### Response: What are the signs and symptoms of Absence of Tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Absence of Tibia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, epiphyseal dysplasia, short stature ? ### Response: What are the signs and symptoms of Deafness, epiphyseal dysplasia, short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, epiphyseal dysplasia, short stature. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive spastic ataxia 4 ? ### Response: What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome 1 ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome 1 ? ### Response: What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome 1 ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isolated anterior cervical hypertrichosis ? ### Response: What are the signs and symptoms of Isolated anterior cervical hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated anterior cervical hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of PEHO syndrome ? ### Response: What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 6, torsion ? ### Response: What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked agammaglobulinemia ? ### Response: X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked agammaglobulinemia ? ### Response: What are the signs and symptoms of X-linked agammaglobulinemia? Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for X-linked agammaglobulinemia ? ### Response: How might X-linked agammaglobulinemia be treated? Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Curry Jones syndrome ? ### Response: What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ? ### Response: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ? ### Response: What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Best vitelliform macular dystrophy ? ### Response: Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Best vitelliform macular dystrophy ? ### Response: What are the signs and symptoms of Best vitelliform macular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Best vitelliform macular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Best vitelliform macular dystrophy ? ### Response: What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. " "Below is an instruction from Human. Write a response. ### Instruction: Is Best vitelliform macular dystrophy inherited ? ### Response: How is Best vitelliform macular dystrophy inherited? Best vitelliform macular dystrophy (BVMD) is most commonly inherited in an autosomal dominant manner, although a few cases with autosomal recessive inheritance have been reported. In autosomal dominant inheritance, having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Best vitelliform macular dystrophy ? ### Response: How is Best vitelliform macular dystrophy diagnosed? Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Onychotrichodysplasia and neutropenia ? ### Response: What are the signs and symptoms of Onychotrichodysplasia and neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychotrichodysplasia and neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hirschsprung's disease ? ### Response: Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hirschsprung's disease ? ### Response: What are the signs and symptoms of Hirschsprung's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hirschsprung's disease ? ### Response: What causes Hirschsprung disease? There are a number of different causes of Hirschsprung disease (HSCR). For example, HSCR may occur as: A part of a syndrome In association with a chromosome anomaly (such as trisomy 21 or Down syndrome) Along with other bi " "Below is an instruction from Human. Write a response. ### Instruction: Is Hirschsprung's disease inherited ? ### Response: Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paroxysmal ventricular fibrillation ? ### Response: What are the signs and symptoms of Paroxysmal ventricular fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal ventricular fibrillation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wiedemann Oldigs Oppermann syndrome ? ### Response: What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Graves' disease ? ### Response: Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Graves' disease ? ### Response: What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scott Bryant Graham syndrome ? ### Response: What are the signs and symptoms of Scott Bryant Graham syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scott Bryant Graham syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) COACH syndrome ? ### Response: COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of COACH syndrome ? ### Response: What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose COACH syndrome ? ### Response: How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the ""molar tooth sign"" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary central nervous system lymphoma ? ### Response: Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital generalized lipodystrophy type 4 ? ### Response: What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Imerslund-Grasbeck syndrome ? ### Response: Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Imerslund-Grasbeck syndrome ? ### Response: What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Imerslund-Grasbeck syndrome ? ### Response: How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial tumoral calcinosis ? ### Response: What are the signs and symptoms of Familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Optic atrophy 6 ? ### Response: What are the signs and symptoms of Optic atrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Binswanger's disease ? ### Response: Binswanger's disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Binswanger's disease ? ### Response: What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to ""executive cognitive functioning,"" including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Binswanger's disease ? ### Response: What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. " "Below is an instruction from Human. Write a response. ### Instruction: Is Binswanger's disease inherited ? ### Response: Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Binswanger's disease ? ### Response: How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Binswanger's disease ? ### Response: How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ? ### Response: What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolfram syndrome ? ### Response: Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wolfram syndrome ? ### Response: What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Wolfram syndrome ? ### Response: What causes Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Changes (mutations) in the WFS1 gene are responsible for approximately 90% of Wolfram syndrome type 1 cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is Wolfram syndrome inherited ? ### Response: Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Wolfram syndrome ? ### Response: How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolfram syndrome ? ### Response: How might Wolfram syndrome be treated? Treatment of Wolfram syndrome is supportive and based on the signs and symptoms present in each person. For example, almost all affected people require insulin to treat diabetes mellitus. People with hearing loss may benefit from hearing aids or cochlear implantation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperglycerolemia ? ### Response: What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary spontaneous pneumothorax ? ### Response: Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary spontaneous pneumothorax ? ### Response: What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Peutz-Jeghers syndrome ? ### Response: What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is Peutz-Jeghers syndrome inherited ? ### Response: Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Peutz-Jeghers syndrome ? ### Response: Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sotos syndrome ? ### Response: Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sotos syndrome ? ### Response: What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Sotos syndrome inherited ? ### Response: How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Joubert syndrome with oculorenal anomalies ? ### Response: What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Systemic capillary leak syndrome ? ### Response: Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Systemic capillary leak syndrome ? ### Response: What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Systemic capillary leak syndrome ? ### Response: How might systemic capillary leak syndrome be treated? Unfortunately, there is no cure for systemic capillary leak syndrome at this time. However, recent studies suggest that taking medication known as beta-adrenergic agonists (including terbutaline) or undergoing immunoglobulin intravenous (IV) therapy may reduce the frequency of attacks and may increase survival in individuals affected with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acrodermatitis enteropathica ? ### Response: Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrodermatitis enteropathica ? ### Response: What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 3, torsion, X-linked ? ### Response: What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetic mastopathy ? ### Response: Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic mastopathy ? ### Response: What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetic mastopathy ? ### Response: What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Diabetic mastopathy ? ### Response: How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Diabetic mastopathy ? ### Response: How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast team or general practitioner. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Encephalitis lethargica ? ### Response: Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ? ### Response: What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sonoda syndrome ? ### Response: What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proximal chromosome 18q deletion syndrome ? ### Response: What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract Hutterite type ? ### Response: What are the signs and symptoms of Cataract Hutterite type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract Hutterite type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mucopolysaccharidosis type IIID ? ### Response: Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type IIID ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type IIID? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIID. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Naegeli syndrome ? ### Response: Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Naegeli syndrome ? ### Response: What are the signs and symptoms of Naegeli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Naegeli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Naegeli syndrome ? ### Response: How is Naegeli syndrome diagnosed? In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The clinical diagnosis may be confirmed by genetic testing of the KRT14 gene. GeneTests lists a laboratory that performs genetic testing of the KRT14 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Naegeli syndrome ? ### Response: Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Flynn Aird syndrome ? ### Response: What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 3 ? ### Response: What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratoderma palmoplantar spastic paralysis ? ### Response: What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Birt-Hogg-Dube syndrome ? ### Response: Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Birt-Hogg-Dube syndrome ? ### Response: What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Birt-Hogg-Dube syndrome ? ### Response: How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metachromatic leukodystrophy due to saposin B deficiency ? ### Response: What are the signs and symptoms of Metachromatic leukodystrophy due to saposin B deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy due to saposin B deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemolytic uremic syndrome ? ### Response: Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemolytic uremic syndrome ? ### Response: What are the signs and symptoms of Hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemolytic uremic syndrome ? ### Response: What causes hemolytic uremic syndrome? Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointestinal system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness conductive ptosis skeletal anomalies ? ### Response: What are the signs and symptoms of Deafness conductive ptosis skeletal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness conductive ptosis skeletal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intervertebral disc disease ? ### Response: Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Intervertebral disc disease ? ### Response: What causes intervertebral disc disease? Intervertebral disc disease (IDD) is a multifactorial disorder, which means that both genetic and environmental factors probably interact to predispose an individual to the condition. It is likely that several factors are needed for development of IDD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intervertebral disc disease ? ### Response: How might intervertebral disc disease be treated? In the absence of red flags, the initial approach to treatment is typically conservative and includes physical therapy and pain medications. In 90% of affected individuals, acute attacks of sciatica usually improve within 4 to 6 weeks without surgical intervention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fanconi like syndrome ? ### Response: What are the signs and symptoms of Fanconi like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-mannosidosis type 1 ? ### Response: What are the signs and symptoms of Alpha-mannosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-mannosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thumb stiff brachydactyly mental retardation ? ### Response: What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pili annulati ? ### Response: Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as ""striped"" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili annulati ? ### Response: What are the signs and symptoms of Pili annulati? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili annulati. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bare lymphocyte syndrome 2 ? ### Response: What are the signs and symptoms of Bare lymphocyte syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gliomatosis cerebri ? ### Response: Gliomatosis cerebri is a type of brain cancer. It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Antley Bixler syndrome ? ### Response: What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy ? ### Response: What are the signs and symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood-onset cerebral X-linked adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia associated with colobomatous cyst ? ### Response: What are the signs and symptoms of Microphthalmia associated with colobomatous cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia associated with colobomatous cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Junctional epidermolysis bullosa ? ### Response: Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Junctional epidermolysis bullosa ? ### Response: What are the signs and symptoms of Junctional epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Junctional epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mousa Al din Al Nassar syndrome ? ### Response: What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichothiodystrophy photosensitive ? ### Response: What are the signs and symptoms of Trichothiodystrophy photosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy photosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pustular psoriasis ? ### Response: Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be ""multifactorial"" or associated with the effects of multiple genes in combination with lifestyle and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Isolated corpus callosum agenesis ? ### Response: Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isolated corpus callosum agenesis ? ### Response: What are the signs and symptoms of Isolated corpus callosum agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated corpus callosum agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Focal dermal hypoplasia ? ### Response: Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Focal dermal hypoplasia ? ### Response: What are the signs and symptoms of Focal dermal hypoplasia? Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Horizontal gaze palsy with progressive scoliosis ? ### Response: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? ### Response: What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneal dystrophy and perceptive deafness ? ### Response: What are the signs and symptoms of Corneal dystrophy and perceptive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy and perceptive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Faciomandibular myoclonus, nocturnal ? ### Response: What are the signs and symptoms of Faciomandibular myoclonus, nocturnal? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciomandibular myoclonus, nocturnal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephalic primordial dwarfism, Montreal type ? ### Response: What are the signs and symptoms of Microcephalic primordial dwarfism, Montreal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic primordial dwarfism, Montreal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 19 ? ### Response: What are the signs and symptoms of Dystonia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 19. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermochondrocorneal dystrophy of Franois ? ### Response: What are the signs and symptoms of Dermochondrocorneal dystrophy of Franois? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermochondrocorneal dystrophy of Franois. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ruvalcaba syndrome ? ### Response: What are the signs and symptoms of Ruvalcaba syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial isolated hyperparathyroidism ? ### Response: Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial isolated hyperparathyroidism ? ### Response: What are the signs and symptoms of Familial isolated hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial isolated hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Familial isolated hyperparathyroidism inherited ? ### Response: How is familial isolated hyperparathyroidism inherited? Familial isolated hyperparathyroidism (FIHP) is typically inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Familial isolated hyperparathyroidism ? ### Response: How is familial isolated hyperparathyroidism diagnosed? The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Biotin-thiamine-responsive basal ganglia disease ? ### Response: Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ? ### Response: What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardioskeletal syndrome Kuwaiti type ? ### Response: What are the signs and symptoms of Cardioskeletal syndrome Kuwaiti type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioskeletal syndrome Kuwaiti type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glaucoma sleep apnea ? ### Response: What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Langerhans cell histiocytosis ? ### Response: Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Langerhans cell histiocytosis ? ### Response: What causes Langerhans cell histiocytosis? The cause of Langerhans cell histiocytosis is unknown. It may be triggered by an unusual reaction of the immune system to something commonly found in the environment. It is not considered to be an infection or cancer. " "Below is an instruction from Human. Write a response. ### Instruction: Is Langerhans cell histiocytosis inherited ? ### Response: Is Langerhans cell histiocytosis inherited? Although Langerhans cell histiocytosis is generally considered a sporadic, non-hereditary condition, it has reportedly affected more than one individual in a family in a very limited number of cases (particularly identical twins). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Langerhans cell histiocytosis ? ### Response: How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out possible cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Langerhans cell histiocytosis ? ### Response: How might Langerhans cell histiocytosis be treated? Treatment for Langerhans cell histiocytosis (LCH) depends upon the individual patient; it may differ depending on the type and severity of the condition as well as what part(s) of the body are affected. In some cases, the disease will regress without any treatment at all. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tracheal agenesis ? ### Response: Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tracheal agenesis ? ### Response: What are the signs and symptoms of Tracheal agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Angelman syndrome ? ### Response: Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Angelman syndrome ? ### Response: What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Angelman syndrome ? ### Response: What causes Angelman syndrome? Angelman syndrome is caused by a loss of function of a gene called UBE3A on chromosome 15. The exact mechanism that causes this loss of function is complex. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is Angelman syndrome inherited ? ### Response: How might Angelman syndrome be inherited? Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SLC4A1-associated distal renal tubular acidosis ? ### Response: What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rhabdoid tumor ? ### Response: Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhabdoid tumor ? ### Response: What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dendritic cell tumor ? ### Response: A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 2 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Monoclonal mast cell activation syndrome ? ### Response: Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sialidosis type I ? ### Response: Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sialidosis type I ? ### Response: What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sialidosis type I ? ### Response: How might sialidosis type I be treated? There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tyrosinemia type 1 ? ### Response: Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tyrosinemia type 1 ? ### Response: What are the signs and symptoms of Tyrosinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tyrosinemia type 1 ? ### Response: How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia mental deficiency ? ### Response: What are the signs and symptoms of Microphthalmia mental deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia mental deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Livedoid vasculopathy ? ### Response: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Livedoid vasculopathy ? ### Response: How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therapy, and avoiding smoking and hormonal contraceptives. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Geleophysic dwarfism ? ### Response: What are the signs and symptoms of Geleophysic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Geleophysic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital radio-ulnar synostosis ? ### Response: What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital radio-ulnar synostosis ? ### Response: What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital radio-ulnar synostosis inherited ? ### Response: How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pure autonomic failure ? ### Response: Pure autonomic failure is characterized by generalized autonomic failure without central nervous system (brain or spinal cord) involvement. The autonomic nervous system is the part of our bodies that controls involuntary actions, such as the widening or narrowing of our blood vessels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Harlequin ichthyosis ? ### Response: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Harlequin ichthyosis ? ### Response: What are the signs and symptoms of Harlequin ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Harlequin ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Harlequin ichthyosis ? ### Response: What causes harlequin ichthyosis? Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). " "Below is an instruction from Human. Write a response. ### Instruction: Is Harlequin ichthyosis inherited ? ### Response: How is harlequin ichthyosis inherited? Harlequin ichthyosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Harlequin ichthyosis ? ### Response: Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple epiphyseal dysplasia 4 ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dominant optic atrophy ? ### Response: Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dominant optic atrophy inherited ? ### Response: How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dominant optic atrophy ? ### Response: How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Buschke Ollendorff syndrome ? ### Response: Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Buschke Ollendorff syndrome ? ### Response: What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the extremities (arms and legs). " "Below is an instruction from Human. Write a response. ### Instruction: Is Buschke Ollendorff syndrome inherited ? ### Response: How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Buschke Ollendorff syndrome ? ### Response: Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Buschke Ollendorff syndrome ? ### Response: How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cicatricial pemphigoid ? ### Response: Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 15 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 16p13.3 deletion syndrome ? ### Response: Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 16p13.3 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 16p13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 16p13.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sulfite oxidase deficiency ? ### Response: What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Castleman disease ? ### Response: Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a ""localized"" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a ""systemic"" disease that affects multiple sets of lymph nodes and other tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Castleman disease ? ### Response: What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Castleman disease ? ### Response: What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Facioscapulohumeral muscular dystrophy ? ### Response: Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Facioscapulohumeral muscular dystrophy ? ### Response: What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epilepsy, benign occipital ? ### Response: What are the signs and symptoms of Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary hemorrhagic telangiectasia ? ### Response: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary hemorrhagic telangiectasia ? ### Response: What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial trifunctional protein deficiency ? ### Response: What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive pseudorheumatoid arthropathy of childhood ? ### Response: Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ? ### Response: What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Localized lipodystrophy ? ### Response: What are the signs and symptoms of Localized lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Localized lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulna metaphyseal dysplasia syndrome ? ### Response: What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nail-patella syndrome ? ### Response: Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nail-patella syndrome ? ### Response: What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short limb dwarf lethal Colavita Kozlowski type ? ### Response: What are the signs and symptoms of Short limb dwarf lethal Colavita Kozlowski type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short limb dwarf lethal Colavita Kozlowski type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anterior segment mesenchymal dysgenesis ? ### Response: What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 1D ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis bullosa of Siemens ? ### Response: What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hypocalciuric hypercalcemia type 1 ? ### Response: What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GTP cyclohydrolase I deficiency ? ### Response: What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial erythema nodosum ? ### Response: What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 4 ? ### Response: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muckle-Wells syndrome ? ### Response: Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muckle-Wells syndrome ? ### Response: What are the signs and symptoms of Muckle-Wells syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Muckle-Wells syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cortisone reductase deficiency ? ### Response: What are the signs and symptoms of Cortisone reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Cortisone reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital central hypoventilation syndrome ? ### Response: Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital central hypoventilation syndrome ? ### Response: What are the signs and symptoms of Congenital central hypoventilation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital central hypoventilation syndrome inherited ? ### Response: How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial progressive cardiac conduction defect ? ### Response: Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial progressive cardiac conduction defect ? ### Response: What are the signs and symptoms of Familial progressive cardiac conduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial progressive cardiac conduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radius absent anogenital anomalies ? ### Response: What are the signs and symptoms of Radius absent anogenital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Radius absent anogenital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ? ### Response: What are the signs and symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ? ### Response: What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphomatoid papulosis ? ### Response: Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphomatoid papulosis ? ### Response: What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphomatoid papulosis ? ### Response: What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lymphomatoid papulosis ? ### Response: How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Senior Loken Syndrome ? ### Response: Senior Loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. It can be caused by mutations in one of at least six genes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Senior Loken Syndrome ? ### Response: What are the signs and symptoms of Senior Loken Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Senior Loken Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphocytic colitis ? ### Response: Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neurofaciodigitorenal syndrome ? ### Response: What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency ? ### Response: What are the signs and symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multisystemic smooth muscle dysfunction syndrome ? ### Response: Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gangliocytoma ? ### Response: Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gangliocytoma ? ### Response: What are the signs and symptoms of gangliocytomas? Signs and symptoms caused by the presence of a gangliocytoma can vary depending on the tumor's location. Seizures are the most common symptom. Other symptoms may include increased brain pressure, endocrine disorders, and focal symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kimura disease ? ### Response: Kimura disease is a rare, benign, chronic disorder that causes inflammation of tissue (nodules) under the skin of the head or neck. These nodules tend to recur despite treatment. The cause of this condition is unknown, but may be due to an immune response. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kimura disease ? ### Response: How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely result in a cure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dermatitis herpetiformis ? ### Response: Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermatitis herpetiformis ? ### Response: What are the signs and symptoms of Dermatitis herpetiformis ? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatitis herpetiformis . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dermatitis herpetiformis ? ### Response: How might dermatitis herpetiformis be treated? The antibiotic dapsone is extremely effective in treating this condition. Symptomatic improvement may occur in as little as several hours after the first dose. However, dapsone may cause serious side effects and requires regular monitoring by a physician. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Baller-Gerold syndrome ? ### Response: Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Baller-Gerold syndrome ? ### Response: What are the signs and symptoms of Baller-Gerold syndrome? Many people with Baller-Gerold syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q11.2 duplication syndrome ? ### Response: 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 22q11.2 duplication syndrome ? ### Response: What are the signs and symptoms of 22q11.2 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 duplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphedema and cerebral arteriovenous anomaly ? ### Response: What are the signs and symptoms of Lymphedema and cerebral arteriovenous anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema and cerebral arteriovenous anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism tall vertebrae ? ### Response: What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Triploidy ? ### Response: Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Triploidy ? ### Response: What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Erythropoietic protoporphyria ? ### Response: What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Erythropoietic protoporphyria ? ### Response: What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Erythropoietic protoporphyria inherited ? ### Response: How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fine-Lubinsky syndrome ? ### Response: Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fine-Lubinsky syndrome ? ### Response: What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fine-Lubinsky syndrome ? ### Response: What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). " "Below is an instruction from Human. Write a response. ### Instruction: Is Fine-Lubinsky syndrome inherited ? ### Response: How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratosis palmoplantaris striata 1 ? ### Response: What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Macrocephaly mesodermal hamartoma spectrum ? ### Response: What are the signs and symptoms of Macrocephaly mesodermal hamartoma spectrum? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly mesodermal hamartoma spectrum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypoaldosteronism ? ### Response: Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypoaldosteronism ? ### Response: How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) LCHAD deficiency ? ### Response: LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of LCHAD deficiency ? ### Response: What are the signs and symptoms of LCHAD deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for LCHAD deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acromesomelic dysplasia Hunter Thompson type ? ### Response: What are the signs and symptoms of Acromesomelic dysplasia Hunter Thompson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Hunter Thompson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Phosphoglycerate kinase deficiency ? ### Response: What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelofibrosis ? ### Response: Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myelofibrosis ? ### Response: What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q13.3 deletion syndrome ? ### Response: 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 22q13.3 deletion syndrome ? ### Response: What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cluttering ? ### Response: Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Combined malonic and methylmalonic aciduria ? ### Response: Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Combined malonic and methylmalonic aciduria ? ### Response: What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pontocerebellar hypoplasia type 5 ? ### Response: What are the signs and symptoms of Pontocerebellar hypoplasia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinal cone dystrophy 4 ? ### Response: What are the signs and symptoms of Retinal cone dystrophy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyomyositis ? ### Response: Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyomyositis ? ### Response: What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lattice corneal dystrophy type 1 ? ### Response: Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lattice corneal dystrophy type 1 ? ### Response: What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mowat-Wilson syndrome ? ### Response: Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mowat-Wilson syndrome ? ### Response: What are the signs and symptoms of Mowat-Wilson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mowat-Wilson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mowat-Wilson syndrome ? ### Response: What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mowat-Wilson syndrome inherited ? ### Response: How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroblastoma ? ### Response: Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5. It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuroblastoma ? ### Response: What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SeSAME syndrome ? ### Response: What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital disorders of glycosylation ? ### Response: Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital disorders of glycosylation ? ### Response: What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher syndrome, type 1E ? ### Response: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Usher syndrome, type 1E ? ### Response: What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Usher syndrome, type 1E inherited ? ### Response: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microcystic adnexal carcinoma ? ### Response: Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well. The average age of diagnosis is 56. This tumor is often first noticed as a bump or yellowish spot in the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Microcystic adnexal carcinoma ? ### Response: Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract congenital Volkmann type ? ### Response: What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Genu valgum, st Helena familial ? ### Response: What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sprengel deformity ? ### Response: Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sprengel deformity ? ### Response: What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sprengel deformity ? ### Response: How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital intrauterine infection-like syndrome ? ### Response: What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Robinow Sorauf syndrome ? ### Response: What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Olivopontocerebellar atrophy ? ### Response: Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. " "Below is an instruction from Human. Write a response. ### Instruction: Is Olivopontocerebellar atrophy inherited ? ### Response: Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Olivopontocerebellar atrophy ? ### Response: How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hair defect with photosensitivity and mental retardation ? ### Response: What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aceruloplasminemia ? ### Response: Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aceruloplasminemia ? ### Response: What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Aceruloplasminemia ? ### Response: How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital rubella ? ### Response: What are the signs and symptoms of Congenital rubella? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital rubella. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypopituitarism ? ### Response: Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camptodactyly taurinuria ? ### Response: What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 5q- syndrome ? ### Response: What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Taurodontia absent teeth sparse hair ? ### Response: What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetramelic monodactyly ? ### Response: What are the signs and symptoms of Tetramelic monodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetramelic monodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 2 ? ### Response: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 2 ? ### Response: What are the signs and symptoms of Aicardi-Goutieres syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHOPS syndrome ? ### Response: CHOPS syndrome is rare condition that affects many different parts of the body. ""CHOPS"" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CHOPS syndrome ? ### Response: What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rheumatoid nodulosis ? ### Response: What are the signs and symptoms of Rheumatoid nodulosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatoid nodulosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abetalipoproteinemia ? ### Response: Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Abetalipoproteinemia ? ### Response: What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Abetalipoproteinemia inherited ? ### Response: How is abetalipoproteinemia inherited? Abetalipoproteinemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Abetalipoproteinemia ? ### Response: Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Abetalipoproteinemia ? ### Response: How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial Mediterranean fever ? ### Response: Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial Mediterranean fever ? ### Response: What are the signs and symptoms of Familial Mediterranean fever? Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash. " "Below is an instruction from Human. Write a response. ### Instruction: Is Familial Mediterranean fever inherited ? ### Response: How is familial Mediterranean fever (FMF) inherited? FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Familial Mediterranean fever ? ### Response: How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial Mediterranean fever ? ### Response: How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune hemolytic anemia ? ### Response: Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/or splenomegaly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autoimmune hemolytic anemia ? ### Response: What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Autoimmune hemolytic anemia ? ### Response: What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. " "Below is an instruction from Human. Write a response. ### Instruction: Is Autoimmune hemolytic anemia inherited ? ### Response: Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ascher Syndrome ? ### Response: Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ascher Syndrome ? ### Response: What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Giant congenital nevus ? ### Response: A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Giant congenital nevus ? ### Response: What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Giant congenital nevus ? ### Response: How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of McKusick Kaufman syndrome ? ### Response: What are the signs and symptoms of McKusick Kaufman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McKusick Kaufman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Macular dystrophy, corneal type 1 ? ### Response: What are the signs and symptoms of Macular dystrophy, corneal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, corneal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cushing's syndrome ? ### Response: Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cushing's syndrome ? ### Response: What are the signs and symptoms of Cushing's syndrome? The signs and symptoms of Cushing's syndrome may include: Upper body obesity Severe fatigue Muscle weakness High blood pressure Backache Elevated blood sugar Easy bruising Bluish-red stretch marks on the skin Neurological issues Women with Cushing's syndrome may also experience increased growth of facial and body hair, and menstrual periods may become irregular or cease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cushing's syndrome ? ### Response: What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dysautonomia like disorder ? ### Response: What are the signs and symptoms of Dysautonomia like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysautonomia like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Infantile axonal neuropathy ? ### Response: What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Plasma cell leukemia ? ### Response: Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of distinct immunophenotypic markers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Joubert syndrome 2 ? ### Response: What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adenocarcinoma of the appendix ? ### Response: Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adenocarcinoma of the appendix ? ### Response: What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adenocarcinoma of the appendix ? ### Response: What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary alveolar proteinosis acquired ? ### Response: Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary alveolar proteinosis acquired ? ### Response: What are the signs and symptoms of Pulmonary alveolar proteinosis acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar proteinosis acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pulmonary alveolar proteinosis acquired ? ### Response: How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glaucoma 3 primary infantile B ? ### Response: What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Good syndrome ? ### Response: Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Griscelli syndrome ? ### Response: What are the signs and symptoms of Griscelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal recessive 4 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal recessive 4 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal recessive 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nephrosis deafness urinary tract digital malformation ? ### Response: What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Immunotactoid or fibrillary glomerulopathy ? ### Response: Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pigmented villonodular synovitis ? ### Response: What causes pigmented villonodular synovitis? The exact cause of pigmented villonodular synovitis (PVNS) is unknown. Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pigmented villonodular synovitis ? ### Response: How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pigmented villonodular synovitis ? ### Response: How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ? ### Response: What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Florid cemento-osseous dysplasia ? ### Response: Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Florid cemento-osseous dysplasia ? ### Response: What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Florid cemento-osseous dysplasia ? ### Response: What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and the rate of lesion growth was rapid. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Florid cemento-osseous dysplasia ? ### Response: How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, namely Paget's disease, chronic diffuse sclerosing osteomyelitis, fibrous dysplasia, osteosarcoma, periapical cemental dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Florid cemento-osseous dysplasia ? ### Response: How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frank Ter Haar syndrome ? ### Response: Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frank Ter Haar syndrome ? ### Response: What are the signs and symptoms of Frank Ter Haar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frank Ter Haar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Odonto onycho dysplasia with alopecia ? ### Response: What are the signs and symptoms of Odonto onycho dysplasia with alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odonto onycho dysplasia with alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Waardenburg syndrome type 2B ? ### Response: What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 3p- syndrome ? ### Response: Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 3p- syndrome ? ### Response: What are the signs and symptoms of Chromosome 3p- syndrome? The signs and symptoms of chromosome 3p- syndrome and the severity of the condition depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chromosome 3p- syndrome ? ### Response: What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. " "Below is an instruction from Human. Write a response. ### Instruction: Is Chromosome 3p- syndrome inherited ? ### Response: Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chromosome 3p- syndrome ? ### Response: How is chromosome 3p- syndrome diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chromosome 3p- syndrome ? ### Response: How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epidermolytic ichthyosis ? ### Response: Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolytic ichthyosis ? ### Response: What are the signs and symptoms of Epidermolytic ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolytic ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Epidermolytic ichthyosis inherited ? ### Response: How is epidermolytic ichthyosis inherited? Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes (KRT1 or KRT10), in people with no family history of EI. However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 39 ? ### Response: What are the signs and symptoms of Spastic paraplegia 39? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 39. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fibrous dysplasia ? ### Response: Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fibrous dysplasia ? ### Response: What are the symptoms of fibrous dysplasia? Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms. The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin). The problems that a person experiences depend on the specific bone(s) affected. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fibrous dysplasia ? ### Response: What causes fibrous dysplasia? The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of their body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fibrous dysplasia ? ### Response: How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones have become misshapen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial avascular necrosis of the femoral head ? ### Response: Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial avascular necrosis of the femoral head ? ### Response: What are the signs and symptoms of Familial avascular necrosis of the femoral head? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial avascular necrosis of the femoral head. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) C1q deficiency ? ### Response: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of C1q deficiency ? ### Response: What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aromatic L-amino acid decarboxylase deficiency ? ### Response: Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aromatic L-amino acid decarboxylase deficiency ? ### Response: What are the signs and symptoms of Aromatic L-amino acid decarboxylase deficiency? Symptoms, which typically present during the first year of life, include severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatic lipase deficiency ? ### Response: Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hepatic lipase deficiency ? ### Response: What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary gastrointestinal melanoma ? ### Response: Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary gastrointestinal melanoma ? ### Response: What are the symptoms of primary melanoma of the small intestine? Symptoms of primary melanoma of the small intestine can vary from person to person. Symptoms tend to be non-specific including nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), and anemia (low red blood cell count). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Primary gastrointestinal melanoma ? ### Response: How might primary melanoma of the small intestine be diagnosed? A variety of tests may be involved in the initial diagnosis of the tumor, including contrast radiography, endoscopy, and CT scan. The tumor is confirmed by surgical resection. Careful study of tissue samples from the tumor under a microscope will show the same immunohistochemical characteristics of skin melanomas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary gastrointestinal melanoma ? ### Response: How might primary melanoma of the small intestine be treated? Treatment of primary melanoma of the small intestine often involves the surgical resection of the tumor. We encourage you to speak with your healthcare provider to learn more about your surgical and other treatment options. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy type 1A ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Anophthalmia plus syndrome ? ### Response: Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anophthalmia plus syndrome ? ### Response: What are the signs and symptoms of Anophthalmia plus syndrome? Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Anophthalmia plus syndrome ? ### Response: How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chester porphyria ? ### Response: Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trisomy 17 mosaicism ? ### Response: Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Trisomy 17 mosaicism ? ### Response: What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Immunotactoid glomerulopathy ? ### Response: Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ? ### Response: What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 9 inversion ? ### Response: Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the long arm. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa simplex, localized ? ### Response: What are the signs and symptoms of Epidermolysis bullosa simplex, localized? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, localized. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial atrial fibrillation ? ### Response: Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial atrial fibrillation ? ### Response: What are the signs and symptoms of Familial atrial fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial atrial fibrillation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial atrial fibrillation ? ### Response: How might familial atrial fibrillation be treated? We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general. Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may involve medications, medical procedures, and lifestyle changes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intravenous leiomyomatosis ? ### Response: What are the signs and symptoms of intravenous leiomyomatosis? IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, ad venous thrombosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intravenous leiomyomatosis ? ### Response: How might intravenous leiomyomatosis be treated? The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of anti-estrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a recurrence and hence further surgery or even death. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menkes disease ? ### Response: Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Menkes disease ? ### Response: What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Early infantile epileptic encephalopathy 4 ? ### Response: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Early infantile epileptic encephalopathy 4 ? ### Response: What are the signs and symptoms of Early infantile epileptic encephalopathy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary vascular retinopathy ? ### Response: What are the signs and symptoms of Hereditary vascular retinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary vascular retinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial ventricular tachycardia ? ### Response: What are the signs and symptoms of Familial ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kohlschutter Tonz syndrome ? ### Response: What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pilomatrixoma ? ### Response: Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pilomatrixoma ? ### Response: What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pilomatrixoma ? ### Response: What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tumor cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pilomatrixoma inherited ? ### Response: Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pilomatrixoma ? ### Response: How is a pilomatrixoma diagnosed? A diagnosis of pilomatrixoma is usually suspected on physical examination. Specialized tests may be ordered to confirm the diagnosis and rule out other conditions that cause similar features. These tests may include an ultrasound, an X-ray, and/or a small biopsy of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pilomatrixoma ? ### Response: How is a pilomatrixoma diagnosed? A diagnosis of pilomatrixoma is usually suspected on physical examination. Specialized tests may be ordered to confirm the diagnosis and rule out other conditions that cause similar features. These tests may include an ultrasound, an X-ray, and/or a small biopsy of the tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Recurrent hydatidiform mole ? ### Response: What are the signs and symptoms of Recurrent hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Recurrent hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyskeratosis congenita autosomal recessive ? ### Response: What are the signs and symptoms of Dyskeratosis congenita autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fibular hypoplasia and complex brachydactyly ? ### Response: What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic active Epstein-Barr virus infection ? ### Response: Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic active Epstein-Barr virus infection ? ### Response: What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vocal cord dysfunction familial ? ### Response: What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic juxtafoveal retinal telangiectasia ? ### Response: Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which enable sharp, daytime vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ? ### Response: What are the signs and symptoms of idiopathic juxtafoveal retinal telangiectasia? Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Idiopathic juxtafoveal retinal telangiectasia ? ### Response: What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Idiopathic juxtafoveal retinal telangiectasia ? ### Response: How might idiopathic juxtafoveal retinal telangiectasia (IJT) be treated? Laser photocoagulation of areas of leakage may be helpful in treating vision loss in people with certain subtypes of IJT, such as Group 1A. A laser is a powerful beam of light which can be focused on the retina. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteogenesis imperfecta ? ### Response: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Osteogenesis imperfecta ? ### Response: What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to strengthen the bones. " "Below is an instruction from Human. Write a response. ### Instruction: Is Osteogenesis imperfecta inherited ? ### Response: How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteogenesis imperfecta ? ### Response: Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ? ### Response: What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Menetrier disease ? ### Response: Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of stomach acid) or achlorhydia (absent levels of stomach acid). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Menetrier disease ? ### Response: What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier disease. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Menetrier disease ? ### Response: What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-, which is found in a specific part of the stomach, the superficial gastric epithelium, might play a role. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Menetrier disease ? ### Response: What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrorenal mandibular syndrome ? ### Response: What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trigger thumb ? ### Response: What are the signs and symptoms of Trigger thumb? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigger thumb. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Duane syndrome type 1 ? ### Response: Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duane syndrome type 1 ? ### Response: What are the signs and symptoms of Duane syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Duane syndrome type 1 ? ### Response: How might Duane syndrome type 1 be treated? Management of Duane syndrome is mainly supportive. It may involve treatment of amblyopia (""lazy eye""); wearing glasses or contact lenses; the use of prisms to correct for abnormal head posture; or possible eye muscle surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Focal dystonia ? ### Response: Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Focal dystonia ? ### Response: What are the signs and symptoms of Focal dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial congenital fourth cranial nerve palsy ? ### Response: What are the signs and symptoms of Familial congenital fourth cranial nerve palsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial congenital fourth cranial nerve palsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneal dystrophy Thiel Behnke type ? ### Response: What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypophosphatemic rickets ? ### Response: Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypophosphatemic rickets ? ### Response: What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowing of the legs and other bone deformities; bone pain; joint pain; and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypophosphatemic rickets ? ### Response: What causes hypophosphatemic rickets? Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes. The specific gene involved determines the way it is inherited. Most commonly, it is caused by a mutation in the PHEX gene. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hypophosphatemic rickets inherited ? ### Response: How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM1 gangliosidosis type 3 ? ### Response: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GM1 gangliosidosis type 3 ? ### Response: What are the signs and symptoms of GM1 gangliosidosis type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Portal hypertension ? ### Response: Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2G ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) West syndrome ? ### Response: West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of West syndrome ? ### Response: What are the signs and symptoms of West syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for West syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked adrenal hypoplasia congenita ? ### Response: X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked adrenal hypoplasia congenita ? ### Response: What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. " "Below is an instruction from Human. Write a response. ### Instruction: Is X-linked adrenal hypoplasia congenita inherited ? ### Response: How is X-linked adrenal hypoplasia congenita inherited? X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia syndromic 9 ? ### Response: What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune atrophic gastritis ? ### Response: Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autoimmune atrophic gastritis ? ### Response: What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Autoimmune atrophic gastritis ? ### Response: What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i. " "Below is an instruction from Human. Write a response. ### Instruction: Is Autoimmune atrophic gastritis inherited ? ### Response: Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Autoimmune atrophic gastritis ? ### Response: How is autoimmune atrophic gastritis diagnosed? A diagnosis of autoimmune atrophic gastritis is generally not suspected until characteristic signs and symptoms are present. Additional testing can then be ordered to confirm the diagnosis. This generally incl " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Autoimmune atrophic gastritis ? ### Response: How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carcinoid syndrome ? ### Response: Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the face (telangiectasias), and wheezing. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital short femur ? ### Response: Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyoderma gangrenosum ? ### Response: Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyoderma gangrenosum ? ### Response: What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyoderma gangrenosum ? ### Response: How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lamellar ichthyosis ? ### Response: Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lamellar ichthyosis ? ### Response: What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lamellar ichthyosis ? ### Response: How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urachal cyst ? ### Response: Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Urachal cyst ? ### Response: What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lum " "Below is an instruction from Human. Write a response. ### Instruction: What causes Urachal cyst ? ### Response: What causes a urachal cyst? A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Urachal cyst ? ### Response: How is a urachal cyst diagnosed? The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis: Ultrasound Magnetic Resonance Imaging (MRI scan) " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urachal cyst ? ### Response: How might a urachal cyst be treated? In many cases, the diagnosis of a urachal cyst is only made when there are complications such as infection. Although some cases of infected urachal cysts have reportedly resolved without any intervention, surgical treatment is generally recommended which involves draining the cyst. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polymicrogyria ? ### Response: Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brown syndrome ? ### Response: Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Brown syndrome ? ### Response: How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medications like Ibuprofen. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Diabetes mellitus type 1 ? ### Response: Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetes mellitus type 1 ? ### Response: What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Diabetes mellitus type 1 inherited ? ### Response: Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertrichosis lanuginosa, acquired ? ### Response: What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation X-linked syndromic 11 ? ### Response: What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary carnitine deficiency ? ### Response: Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary carnitine deficiency ? ### Response: What are the signs and symptoms of Primary carnitine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary carnitine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary carnitine deficiency ? ### Response: What causes primary carnitine deficiency? Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Primary carnitine deficiency inherited ? ### Response: How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the disease-causing gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary carnitine deficiency ? ### Response: How might primary carnitine deficiency be treated? Most individuals with primary carnitine deficiency are followed by a metabolic doctor as well as a dietician familiar with this condition. Certain treatments may be advised for some children but not others. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract and cardiomyopathy ? ### Response: What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Floating-Harbor syndrome ? ### Response: Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Floating-Harbor syndrome ? ### Response: What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Floating-Harbor syndrome ? ### Response: What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Floating-Harbor syndrome ? ### Response: How might Floating-Harbor syndrome be treated? Treatment for Floating-Harbor syndrome is symptomatic and supportive. For example, dental problems and cataracts may be surgically corrected and sign language and/or speech therapy may help with delays in expressive language. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Single upper central incisor ? ### Response: What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Factor V deficiency ? ### Response: Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Factor V deficiency ? ### Response: What are the signs and symptoms of Factor V deficiency? The symptoms of factor V deficiency may include: Bleeding into the skin Excessive bruising Nose bleeds Bleeding of the gums Excessive menstrual bleeding Prolonged or excessive loss of blood with surgery or trauma Umbilical stump bleeding The Human Phenotype Ontology provides the following list of signs and symptoms for Factor V deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Factor V deficiency ? ### Response: What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Factor V deficiency ? ### Response: How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery. Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 3 methylglutaconic aciduria type V ? ### Response: What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute respiratory distress syndrome ? ### Response: Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acute respiratory distress syndrome ? ### Response: How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Late-onset retinal degeneration ? ### Response: What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gamma heavy chain disease ? ### Response: Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body. Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gamma heavy chain disease ? ### Response: What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gamma heavy chain disease ? ### Response: What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gamma heavy chain disease ? ### Response: How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Autosomal dominant nocturnal frontal lobe epilepsy ? ### Response: How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tay-Sachs disease ? ### Response: Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tay-Sachs disease ? ### Response: What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tay-Sachs disease ? ### Response: What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tay-Sachs disease inherited ? ### Response: How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tay-Sachs disease ? ### Response: How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tranebjaerg Svejgaard syndrome ? ### Response: Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tranebjaerg Svejgaard syndrome ? ### Response: What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bantu siderosis ? ### Response: What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia ? ### Response: What are the signs and symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly pontocerebellar hypoplasia dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Relapsing polychondritis ? ### Response: Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Relapsing polychondritis ? ### Response: What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Relapsing polychondritis ? ### Response: What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. " "Below is an instruction from Human. Write a response. ### Instruction: Is Relapsing polychondritis inherited ? ### Response: Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Relapsing polychondritis ? ### Response: How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary sensory and autonomic neuropathy ? ### Response: Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylospinal thoracic dysostosis ? ### Response: What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectodermal dysplasia skin fragility syndrome ? ### Response: What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Persistent genital arousal disorder ? ### Response: Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive sexual dysfunction associated with excessive and unremitting genital arousal and engorgement in the absence of sexual interest. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Infantile spasms broad thumbs ? ### Response: What are the signs and symptoms of Infantile spasms broad thumbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile spasms broad thumbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 1C ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Benign recurrent intrahepatic cholestasis ? ### Response: What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ? ### Response: What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fukuyama type muscular dystrophy ? ### Response: What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kaufman oculocerebrofacial syndrome ? ### Response: What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sudden sensorineural hearing loss ? ### Response: Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Subcortical band heterotopia ? ### Response: What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pinheiro Freire-Maia Miranda syndrome ? ### Response: What are the signs and symptoms of Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pterygium colli mental retardation digital anomalies ? ### Response: What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SCOT deficiency ? ### Response: SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SCOT deficiency ? ### Response: What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SCOT deficiency ? ### Response: What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SCOT deficiency ? ### Response: What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acromesomelic dysplasia Maroteaux type ? ### Response: What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kasznica Carlson Coppedge syndrome ? ### Response: What are the signs and symptoms of Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune hepatitis ? ### Response: Autoimmune hepatitis is a disease in which the bodys immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Autoimmune hepatitis ? ### Response: What causes autoimmune hepatitis? Although the exact cause of autoimmune hepatitis is unknown, evidence suggests that liver injury in a patient with autoimmune hepatitis is the result of a cell-mediated immunologic attack. This autoimmune attack may be triggered by genetic factors, viral infections, or chemical agents. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Autoimmune hepatitis ? ### Response: What causes autoimmune hepatitis? Although the exact cause of autoimmune hepatitis is unknown, evidence suggests that liver injury in a patient with autoimmune hepatitis is the result of a cell-mediated immunologic attack. This autoimmune attack may be triggered by genetic factors, viral infections, or chemical agents. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Autoimmune hepatitis ? ### Response: How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperinsulinemic hypoglycemia familial 3 ? ### Response: What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydrolethalus syndrome ? ### Response: What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Succinic acidemia ? ### Response: What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Potassium aggravated myotonia ? ### Response: Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Potassium aggravated myotonia ? ### Response: What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneal dystrophy of Bowman layer type 1 ? ### Response: What are the signs and symptoms of Corneal dystrophy of Bowman layer type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy of Bowman layer type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Synostoses, tarsal, carpal, and digital ? ### Response: What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pontocerebellar hypoplasia type 2 ? ### Response: Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pontocerebellar hypoplasia type 2 ? ### Response: What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Weissenbacher-Zweymuller syndrome ? ### Response: What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome, kyphoscoliosis type ? ### Response: What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome, kyphoscoliosis type inherited ? ### Response: Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ? ### Response: How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm th " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ? ### Response: How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kleiner Holmes syndrome ? ### Response: What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart-hand syndrome, Slovenian type ? ### Response: What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Groenouw type I corneal dystrophy ? ### Response: What are the signs and symptoms of Groenouw type I corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Groenouw type I corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatocellular carcinoma, childhood ? ### Response: Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hepatocellular carcinoma, childhood ? ### Response: What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hepatocellular carcinoma, childhood ? ### Response: What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hodgkin lymphoma ? ### Response: What are the signs and symptoms of Hodgkin lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hodgkin lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fetal retinoid syndrome ? ### Response: Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bladder cancer ? ### Response: Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bladder cancer ? ### Response: What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Robinow syndrome ? ### Response: Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Robinow syndrome ? ### Response: What are the signs and symptoms of Robinow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Robinow syndrome inherited ? ### Response: How is Robinow syndrome inherited? Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Robinow syndrome ? ### Response: Is genetic testing available for Robinow syndrome? Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lissencephaly X-linked ? ### Response: What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ? ### Response: What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Achalasia ? ### Response: Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achalasia ? ### Response: What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Achalasia ? ### Response: What causes achalasia? The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Achalasia ? ### Response: How is achalasia diagnosed? Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Achalasia ? ### Response: How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuropathy ataxia retinitis pigmentosa syndrome ? ### Response: Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuropathy ataxia retinitis pigmentosa syndrome ? ### Response: What are the signs and symptoms of Neuropathy ataxia retinitis pigmentosa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy ataxia retinitis pigmentosa syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of HurlerScheie syndrome ? ### Response: What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? ### Response: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? ### Response: What are the signs and symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation . " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glutaric acidemia type I ? ### Response: Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glutaric acidemia type I ? ### Response: What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms begin in adolescence or adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Glutaric acidemia type I inherited ? ### Response: How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Glutaric acidemia type I ? ### Response: Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinal muscular atrophy with respiratory distress 1 ? ### Response: What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation Smith Fineman Myers type ? ### Response: What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alopecia totalis ? ### Response: Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia totalis ? ### Response: What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary fructose intolerance ? ### Response: Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hereditary fructose intolerance ? ### Response: What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary fructose intolerance inherited ? ### Response: How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary fructose intolerance ? ### Response: How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Uncombable hair syndrome ? ### Response: Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Uncombable hair syndrome ? ### Response: What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Uncombable hair syndrome ? ### Response: What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. " "Below is an instruction from Human. Write a response. ### Instruction: Is Uncombable hair syndrome inherited ? ### Response: Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Uncombable hair syndrome ? ### Response: How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Uncombable hair syndrome ? ### Response: How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Small patella syndrome ? ### Response: What are the signs and symptoms of Small patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Small patella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intrahepatic cholestasis of pregnancy ? ### Response: Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intrahepatic cholestasis of pregnancy ? ### Response: What are the signs and symptoms of Intrahepatic cholestasis of pregnancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrahepatic cholestasis of pregnancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Intrahepatic cholestasis of pregnancy ? ### Response: What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Intrahepatic cholestasis of pregnancy ? ### Response: How is intrahepatic cholestasis of pregnancy diagnosed? Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intrahepatic cholestasis of pregnancy ? ### Response: How might intrahepatic cholestasis of pregnancy be treated? Treatment for intrahepatic cholestasis of pregnancy aims to relieve itching and prevent complications. Medications utilized to relieve itching might include ursodiol (Actigall, Urso), which helps decrease the level of bile in the mother's bloodstream, relieves itchiness and may reduce complications for the baby. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydatidiform mole ? ### Response: Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydatidiform mole ? ### Response: What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gilbert syndrome ? ### Response: Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gilbert syndrome ? ### Response: What are the signs and symptoms of Gilbert syndrome? While many people with Gilbert syndrome never experience any symptoms, mild jaundice may occur if bilirubin levels get high enough. Other possible symptoms may include fatigue, weakness and abdominal pain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gilbert syndrome inherited ? ### Response: How is Gilbert syndrome inherited? Gilbert syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Gilbert syndrome ? ### Response: Is genetic testing available for Gilbert syndrome? The Genetic Testing Registry provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gilbert syndrome ? ### Response: How might Gilbert syndrome be treated? Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elevated bilirubin levels and reduce signs of jaundice. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kyrle disease ? ### Response: Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that eventually grow and form red-brown nodules with a central keratin (horny) plug. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kyrle disease ? ### Response: What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kyrle disease ? ### Response: How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adolescent idiopathic scoliosis ? ### Response: Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated ""s"" or ""C"" shape, and the bones of the spine become slightly twisted or rotated. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adolescent idiopathic scoliosis ? ### Response: What are the symptoms of adolescent idiopathic scoliosis? Adolescent idiopathic scoliosis is characterized by an abnormal curvature of the spine (usually in an elongated ""S"" or ""C"" shape), along with twisted or rotated bones of the spine. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adolescent idiopathic scoliosis ? ### Response: What causes adolescent idiopathic scoliosis? The term ""idiopathic"" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not yet been identified. " "Below is an instruction from Human. Write a response. ### Instruction: Is Adolescent idiopathic scoliosis inherited ? ### Response: Is adolescent idiopathic scoliosis inherited? Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adolescent idiopathic scoliosis ? ### Response: How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Phosphoglycerate mutase deficiency ? ### Response: What are the signs and symptoms of Phosphoglycerate mutase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate mutase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2H ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oligoastrocytoma ? ### Response: Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked lymphoproliferative syndrome 2 ? ### Response: What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neurofibromatosis-Noonan syndrome ? ### Response: What are the signs and symptoms of Neurofibromatosis-Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis-Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thoracic outlet syndrome ? ### Response: Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thoracic outlet syndrome ? ### Response: What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Thoracic outlet syndrome inherited ? ### Response: Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Thoracic outlet syndrome ? ### Response: How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 2, torsion, autosomal recessive ? ### Response: What are the signs and symptoms of Dystonia 2, torsion, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 2, torsion, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 22q11.2 deletion syndrome ? ### Response: 22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 22q11.2 deletion syndrome ? ### Response: What are the signs and symptoms of 22q11.2 deletion syndrome? Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include: Heart defects (74% of individuals) Palatal abnormalities (69% of individuals) Characteristic facial features (e. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 22q11.2 deletion syndrome ? ### Response: What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. " "Below is an instruction from Human. Write a response. ### Instruction: Is 22q11.2 deletion syndrome inherited ? ### Response: Is 22q11.2 deletion syndrome inherited? Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurogenic diabetes insipidus ? ### Response: Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neurogenic diabetes insipidus ? ### Response: What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Laron syndrome ? ### Response: Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Laron syndrome ? ### Response: What are the signs and symptoms of Laron syndrome? Laron syndrome is a rare condition in which the body is unable to use growth hormone. The primary symptom is short stature. Although affected people are generally close to average size at birth, they experience slow growth from early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Laron syndrome ? ### Response: What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. " "Below is an instruction from Human. Write a response. ### Instruction: Is Laron syndrome inherited ? ### Response: Is Laron syndrome inherited? Most cases of Laron syndrome are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Laron syndrome ? ### Response: How is Laron syndrome diagnosed? A diagnosis of Laron syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Laron syndrome ? ### Response: How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrocallosal syndrome, Schinzel type ? ### Response: What are the signs and symptoms of Acrocallosal syndrome, Schinzel type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocallosal syndrome, Schinzel type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Copper deficiency, familial benign ? ### Response: What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lipodermatosclerosis ? ### Response: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipodermatosclerosis ? ### Response: What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose v " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lipodermatosclerosis ? ### Response: What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Lipodermatosclerosis ? ### Response: How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lipodermatosclerosis ? ### Response: How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Torticollis, familial ? ### Response: What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 1 ? ### Response: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Woolly hair syndrome ? ### Response: What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Penoscrotal transposition ? ### Response: What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia-intellectual disability syndrome ? ### Response: What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Calciphylaxis ? ### Response: Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Coffin-Siris syndrome ? ### Response: Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Coffin-Siris syndrome ? ### Response: How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coffin-Siris syndrome ? ### Response: How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Non-A-E hepatitis ? ### Response: Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen, and fever. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? ### Response: What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 7 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 10 ? ### Response: What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dextrocardia with unusual facies and microphthalmia ? ### Response: What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Insulinoma ? ### Response: What are the signs and symptoms of Insulinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly deafness syndrome ? ### Response: What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stevens-Johnson syndrome ? ### Response: Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stevens-Johnson syndrome ? ### Response: What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must involve less than 10% of the body surface area. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Stevens-Johnson syndrome ? ### Response: What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinocerebellar ataxia 15 ? ### Response: Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyloidosis AA ? ### Response: Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amyloidosis AA ? ### Response: What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Graham-Cox syndrome ? ### Response: What are the signs and symptoms of Graham-Cox syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham-Cox syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ? ### Response: Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? ### Response: What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Agammaglobulinemia, non-Bruton type ? ### Response: What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polyglucosan body disease, adult ? ### Response: Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polyglucosan body disease, adult ? ### Response: What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant caf au lait spots ? ### Response: What are the signs and symptoms of Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tracheoesophageal fistula ? ### Response: Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tracheoesophageal fistula ? ### Response: What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tracheoesophageal fistula inherited ? ### Response: Is tracheoesophageal fistula inherited? In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pilodental dysplasia with refractive errors ? ### Response: What are the signs and symptoms of Pilodental dysplasia with refractive errors? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilodental dysplasia with refractive errors. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Abruzzo Erickson syndrome ? ### Response: What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autoimmune myocarditis ? ### Response: Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Behr syndrome ? ### Response: Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Behr syndrome ? ### Response: What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Behr syndrome ? ### Response: What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Behr syndrome ? ### Response: What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 14q deletion ? ### Response: Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary sensory neuropathy type 1 ? ### Response: Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary sensory neuropathy type 1 ? ### Response: What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary sensory neuropathy type 1 inherited ? ### Response: How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary sensory neuropathy type 1 ? ### Response: How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ? ### Response: What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sjogren-Larsson-like syndrome ? ### Response: What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Von Willebrand disease ? ### Response: Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Von Willebrand disease ? ### Response: What are the signs and symptoms of Von Willebrand disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Von Willebrand disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Von Willebrand disease ? ### Response: What causes von Willebrand disease? Von Willebrand disease is typically an inherited disease caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. " "Below is an instruction from Human. Write a response. ### Instruction: Is Von Willebrand disease inherited ? ### Response: Is von Willebrand disease always inherited from a parent? Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inherited in an autosomal recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aspergillosis ? ### Response: Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aspergillosis ? ### Response: How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Madelung disease ? ### Response: Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Madelung disease ? ### Response: What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Madelung disease ? ### Response: What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. " "Below is an instruction from Human. Write a response. ### Instruction: Is Madelung disease inherited ? ### Response: Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Madelung disease ? ### Response: How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Madelung disease ? ### Response: How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ? ### Response: What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Malakoplakia ? ### Response: Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dermatomyositis ? ### Response: Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterized by chronic muscle inflammation accompanied by muscle weakness. The cardinal symptom is a skin rash that precedes or accompanies progressive muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermatomyositis ? ### Response: What are the signs and symptoms of Dermatomyositis? The signs and symptoms of dermatomyositis may appear suddenly or develop gradually, over weeks or months. The cardinal symptom of dermatomyositis is a skin rash that precedes or accompanies progressive muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dermatomyositis ? ### Response: What causes dermatomyositis? The cause of this disorder is unknown. It is theorized that an autoimmune reaction (reactions caused by an immune response against the body's own tissues) or a viral infection of the skeletal muscle may cause the disease. In addition, some doctors think certain people may have a genetic susceptibility to the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Dermatomyositis ? ### Response: How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fetal akinesia syndrome X-linked ? ### Response: What are the signs and symptoms of Fetal akinesia syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal akinesia syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Craniometaphyseal dysplasia, autosomal recessive type ? ### Response: Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ? ### Response: What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Craniometaphyseal dysplasia, autosomal recessive type ? ### Response: What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ? ### Response: How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital primary aphakia ? ### Response: Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital primary aphakia ? ### Response: What are the signs and symptoms of Congenital primary aphakia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital primary aphakia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurocutaneous melanosis ? ### Response: Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neurocutaneous melanosis ? ### Response: What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Phacomatosis pigmentovascularis ? ### Response: Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Phacomatosis pigmentovascularis ? ### Response: What are the signs and symptoms of phacomatosis pigmentovascularis? Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Phacomatosis pigmentovascularis ? ### Response: What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Phacomatosis pigmentovascularis ? ### Response: What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Phacomatosis pigmentovascularis ? ### Response: How might phacomatosis pigmentovascularis be treated? If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-switched laser the appearance of pigmentary nevus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic inflammatory demyelinating polyneuropathy ? ### Response: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic inflammatory demyelinating polyneuropathy ? ### Response: What are the signs and symptoms of Chronic inflammatory demyelinating polyneuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic inflammatory demyelinating polyneuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic inflammatory demyelinating polyneuropathy ? ### Response: What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic inflammatory demyelinating polyneuropathy ? ### Response: What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyruvate kinase deficiency ? ### Response: Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyruvate kinase deficiency ? ### Response: What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pyruvate kinase deficiency ? ### Response: What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pyruvate kinase deficiency inherited ? ### Response: How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is located on chromosome 1q21. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pyruvate kinase deficiency ? ### Response: Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyruvate kinase deficiency ? ### Response: How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudoachondroplasia ? ### Response: Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudoachondroplasia ? ### Response: What are the signs and symptoms of Pseudoachondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pseudoachondroplasia inherited ? ### Response: How is pseudoachondroplasia inherited? Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital sucrase-isomaltase deficiency ? ### Response: Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital sucrase-isomaltase deficiency ? ### Response: What are the signs and symptoms of Congenital sucrase-isomaltase deficiency? Affected infants usually develop symptoms soon after they first ingest sucrose, which is found in modified milk formulas, fruits, or starches. Symptoms may include explosive, watery diarrhea resulting in abnormally low levels of body fluids (dehydration), abdominal swelling (distension), and/or abdominal discomfort. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital sucrase-isomaltase deficiency ? ### Response: How is congenital sucrase-isomaltase deficiency (CSID) diagnosed? CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital sucrase-isomaltase deficiency ? ### Response: How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anti-plasmin deficiency, congenital ? ### Response: What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Scleroderma ? ### Response: Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scleroderma ? ### Response: What are the signs and symptoms of Scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scleroderma ? ### Response: What are the signs and symptoms of Scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypotrichosis simplex ? ### Response: Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypotrichosis simplex ? ### Response: What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypotrichosis simplex ? ### Response: Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Angioma serpiginosum, autosomal dominant ? ### Response: What are the signs and symptoms of Angioma serpiginosum, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked hypohidrotic ectodermal dysplasia ? ### Response: What are the signs and symptoms of X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycythemia vera ? ### Response: Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycythemia vera ? ### Response: What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Polycythemia vera inherited ? ### Response: Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Polycythemia vera ? ### Response: What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ? ### Response: What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reducing body myopathy ? ### Response: What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pineal cyst ? ### Response: Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pineal cyst ? ### Response: What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pineal cyst ? ### Response: What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pineal cyst ? ### Response: How might pineal cysts be treated? The best treatment options for pineal cysts depend on many factors, including the size of the cyst and whether or not it is associated with symptoms. For example, people with pineal cysts that do not cause symptoms may not require any form of treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Huntington disease ? ### Response: Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Huntington disease ? ### Response: What causes Huntington disease? Huntington disease (HD) is caused by a change (mutation) in the HTT gene. This gene gives instructions for making a protein called huntingtin. The exact function of this protein is unclear, but it appears to be important to nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Huntington disease inherited ? ### Response: How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and develop the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Huntington disease ? ### Response: Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Huntington disease ? ### Response: How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple epiphyseal dysplasia 2 ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ? ### Response: What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Blue rubber bleb nevus syndrome ? ### Response: Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Blue rubber bleb nevus syndrome ? ### Response: What are the signs and symptoms of Blue rubber bleb nevus syndrome? Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Blue rubber bleb nevus syndrome ? ### Response: What are the signs and symptoms of Blue rubber bleb nevus syndrome? Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Blue rubber bleb nevus syndrome ? ### Response: How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Preaxial polydactyly type 2 ? ### Response: What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratoderma palmoplantar deafness ? ### Response: What are the signs and symptoms of Keratoderma palmoplantar deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vitreoretinochoroidopathy dominant ? ### Response: What are the signs and symptoms of Vitreoretinochoroidopathy dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Vitreoretinochoroidopathy dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klumpke paralysis ? ### Response: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klumpke paralysis ? ### Response: How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microscopic polyangiitis ? ### Response: Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microscopic polyangiitis ? ### Response: What are the signs and symptoms of Microscopic polyangiitis? The symptoms of MPA depend on which blood vessels are involved and what organs in the body are affected. The most common symptoms of MPA include kidney inflammation, weight loss, skin lesions, nerve damage, and fevers. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Microscopic polyangiitis ? ### Response: What causes microscopic polyangiitis (MPA)? The cause of MPA is unknown. It is not contagious, does not usually run in families, and is not a form of cancer. The immune system is thought to play a critical role in the development of MPA. It is thought that the immune system becomes overactive and causes blood vessel and tissue inflammation, which leads to organ damage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Microscopic polyangiitis ? ### Response: What is the treatment for microscopic polyangiitis (MPA)? MPA is treated with medications that suppress the immune system, which can lower an individual's resistance to infections. There are a variety of immune suppressing medications that are used in MPA; however, resources state that a steroid (usually prednisone) and a medication toxic to cells (usually starting with cyclophosphamide) are typically prescribed first. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crisponi syndrome ? ### Response: What are the signs and symptoms of Crisponi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crisponi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hypocalciuric hypercalcemia type 2 ? ### Response: What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetralogy of Fallot ? ### Response: What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erythema multiforme ? ### Response: Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia ? ### Response: What are the signs and symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive palmoplantar keratoderma and congenital alopecia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ? ### Response: What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Xeroderma pigmentosum type 7 ? ### Response: What are the signs and symptoms of Xeroderma pigmentosum type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Xeroderma pigmentosum type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leiner disease ? ### Response: What are the signs and symptoms of Leiner disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiner disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weaver syndrome ? ### Response: Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Weaver syndrome ? ### Response: What are the signs and symptoms of Weaver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weaver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Giant axonal neuropathy ? ### Response: Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Giant axonal neuropathy ? ### Response: What are the signs and symptoms of Giant axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 8p deletion ? ### Response: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Barrett esophagus ? ### Response: Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Barrett esophagus ? ### Response: What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Barrett esophagus ? ### Response: What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may decrease the risk include having a Helicobacter pylori (H. " "Below is an instruction from Human. Write a response. ### Instruction: Is Barrett esophagus inherited ? ### Response: Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Barrett esophagus ? ### Response: How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Barrett esophagus ? ### Response: How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile amyotrophic lateral sclerosis ? ### Response: Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile amyotrophic lateral sclerosis ? ### Response: What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile amyotrophic lateral sclerosis ? ### Response: What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile amyotrophic lateral sclerosis ? ### Response: How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemifacial microsomia ? ### Response: Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemifacial microsomia ? ### Response: What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hemifacial microsomia inherited ? ### Response: Is hemifacial microsomia inherited? Hemifacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemifacial microsomia ? ### Response: How might hemifacial microsomia be treated? Treatment of hemifacial microsomia varies depending on the features present and the severity in each affected person. Various types of surgeries may be needed in many cases. Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Swyer-James syndrome ? ### Response: Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Swyer-James syndrome ? ### Response: What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Swyer-James syndrome ? ### Response: What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Swyer-James syndrome ? ### Response: How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Axial spondylometaphyseal dysplasia ? ### Response: How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias ? ### Response: What are the signs and symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial deficiency, postaxial polydactyly and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neonatal hemochromatosis ? ### Response: Neonatal hemochromatosis is a disease in which too much iron builds up in the body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neonatal hemochromatosis ? ### Response: What are the signs and symptoms of Neonatal hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal hemochromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ? ### Response: What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lichen sclerosus ? ### Response: Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lichen sclerosus ? ### Response: What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lichen sclerosus ? ### Response: What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lichen sclerosus ? ### Response: How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial complex II deficiency ? ### Response: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial complex II deficiency ? ### Response: What are the signs and symptoms of Mitochondrial complex II deficiency? The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Many factors affect symptom and symptom severity, including what gene mutation is involved. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mitochondrial complex II deficiency inherited ? ### Response: What causes mitochondrial complex II deficiency? Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial complex II deficiency ? ### Response: How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cold agglutinin disease ? ### Response: Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cold agglutinin disease ? ### Response: What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cold agglutinin disease ? ### Response: What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cold agglutinin disease inherited ? ### Response: Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes likely interact to predispose a person to developing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cold agglutinin disease ? ### Response: How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cold agglutinin disease ? ### Response: How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnose and treat the underlying condition which may include certain types of cancer; bacterial, viral, or parasitic infections; and/or other autoimmune disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mal de debarquement ? ### Response: Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness, and difficulty concentrating. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mal de debarquement ? ### Response: How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rh deficiency syndrome ? ### Response: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 10 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Klatskin tumor ? ### Response: Klatskin tumors are tumors that affect the upper part of the bile duct where it divides to enter the right and left parts of the liver. One or both sides may be affected. Individuals with Klatskin tumors often present with jaundice and/or abnormal liver tests. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Klatskin tumor ? ### Response: What are the signs and symptoms of Klatskin tumor? The symptoms associated with Klatskin tumors are usually due to blocked bile ducts. Symptoms may include: Jaundice Itching Light colored stools and/or dark urine Abdominal pain Loss of appetite / weight loss Fever Nausea / vomiting The Human Phenotype Ontology provides the following list of signs and symptoms for Klatskin tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tibia absent polydactyly arachnoid cyst ? ### Response: What are the signs and symptoms of Tibia absent polydactyly arachnoid cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Tibia absent polydactyly arachnoid cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract, total congenital ? ### Response: What are the signs and symptoms of Cataract, total congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, total congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial glucocorticoid deficiency ? ### Response: What are the signs and symptoms of Familial glucocorticoid deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial glucocorticoid deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of PCDH19-related female-limited epilepsy ? ### Response: What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kernicterus ? ### Response: Kernicterus is a rare condition that affects the brain. It refers to a form of brain damage that occurs when neonatal jaundice goes untreated for too long. The severity of the condition and the associated signs and symptoms vary significantly from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kernicterus ? ### Response: What are the signs and symptoms of Kernicterus? The Human Phenotype Ontology provides the following list of signs and symptoms for Kernicterus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leber hereditary optic neuropathy with dystonia ? ### Response: Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber hereditary optic neuropathy with dystonia ? ### Response: What are the signs and symptoms of Leber hereditary optic neuropathy with dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy with dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM1 gangliosidosis type 1 ? ### Response: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GM1 gangliosidosis type 1 ? ### Response: What are the signs and symptoms of GM1 gangliosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pudendal Neuralgia ? ### Response: Pudendal neuralgia occurs when the pudendal nerve is injured or compressed. Symptoms include pain, burning, tingling, or numbness in the pelvic or buttock areas; symptoms worsen while an affected individual is in a sitting position. The cause of pudendal neuralgia is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pudendal Neuralgia ? ### Response: What treatments are available for pudendal neuralgia? There are no established guidelines for the treatment of pudendal neuralgia. Treatment may include medications, the use of a specialized cushion while sitting, nerve block, surgery to remove nearby tissues that may be pressing on the pudendal nerve, or nerve stimulation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Vernal keratoconjunctivitis ? ### Response: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name ""vernal"") and summer but often reoccur in the winter. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syndactyly type 9 ? ### Response: What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hallermann-Streiff syndrome ? ### Response: Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hallermann-Streiff syndrome ? ### Response: What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hallermann-Streiff syndrome ? ### Response: What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hallermann-Streiff syndrome inherited ? ### Response: How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hallermann-Streiff syndrome ? ### Response: Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-Streiff syndrome click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hallermann-Streiff syndrome ? ### Response: How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rotor syndrome ? ### Response: Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rotor syndrome ? ### Response: What are the signs and symptoms of Rotor syndrome? Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Rotor syndrome ? ### Response: What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be cleared from the body. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Rotor syndrome ? ### Response: How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rotor syndrome ? ### Response: How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) PURA syndrome ? ### Response: PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal dysplasia diffuse cystic ? ### Response: What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness enamel hypoplasia nail defects ? ### Response: What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial neurogastrointestinal encephalopathy syndrome ? ### Response: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome ? ### Response: What are the signs and symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial neurogastrointestinal encephalopathy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mitochondrial neurogastrointestinal encephalopathy syndrome ? ### Response: How might mitochondrial neurogastrointestinal encephalopathy syndrome be treated? References John M Shoffner. Mitochondrial Neurogastrointestinal Encephalopathy Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1179/. Accessed 3/27/2011. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Catecholaminergic polymorphic ventricular tachycardia ? ### Response: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Catecholaminergic polymorphic ventricular tachycardia ? ### Response: What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ? ### Response: Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nonspherocytic hemolytic anemia due to hexokinase deficiency ? ### Response: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nonspherocytic hemolytic anemia due to hexokinase deficiency ? ### Response: What causes nonspherocytic hemolytic anemia due to hexokinase deficiency? Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited ? ### Response: How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nonspherocytic hemolytic anemia due to hexokinase deficiency ? ### Response: How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated? When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Boomerang dysplasia ? ### Response: What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency ? ### Response: What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermoids of cornea ? ### Response: What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kallmann syndrome 6 ? ### Response: What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial encephalopathy with neuroserpin inclusion bodies ? ### Response: What are the signs and symptoms of Familial encephalopathy with neuroserpin inclusion bodies? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial encephalopathy with neuroserpin inclusion bodies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Whistling face syndrome, recessive form ? ### Response: What are the signs and symptoms of Whistling face syndrome, recessive form? The Human Phenotype Ontology provides the following list of signs and symptoms for Whistling face syndrome, recessive form. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tetra-amelia syndrome ? ### Response: Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetra-amelia syndrome ? ### Response: What are the signs and symptoms of Tetra-amelia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetra-amelia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tetra-amelia syndrome ? ### Response: How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Langer mesomelic dysplasia ? ### Response: What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prothrombin thrombophilia ? ### Response: Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the deep veins of the legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prothrombin thrombophilia ? ### Response: What are the signs and symptoms of Prothrombin thrombophilia? The signs and symptoms of this condition depend on whether a person has inherited one or two copies of the F2 gene mutation from his or her parents. A person who inherits one gene mutation is called a heterozygote. " "Below is an instruction from Human. Write a response. ### Instruction: Is Prothrombin thrombophilia inherited ? ### Response: How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Prothrombin thrombophilia ? ### Response: What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolffian tumor ? ### Response: Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Baraitser-Winter syndrome ? ### Response: What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cogan-Reese syndrome ? ### Response: Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ? ### Response: What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nystagmus, congenital motor, autosomal recessive ? ### Response: What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thai symphalangism syndrome ? ### Response: What are the signs and symptoms of Thai symphalangism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thai symphalangism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radio-ulnar synostosis type 1 ? ### Response: What are the signs and symptoms of Radio-ulnar synostosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fetal hydantoin syndrome ? ### Response: Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fetal hydantoin syndrome ? ### Response: What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Synovial chondromatosis, familial with dwarfism ? ### Response: What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of High molecular weight kininogen deficiency ? ### Response: What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Palant cleft palate syndrome ? ### Response: What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sialadenitis ? ### Response: Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sialadenitis ? ### Response: What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Sialadenitis ? ### Response: What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sialadenitis ? ### Response: How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cherubism ? ### Response: Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cherubism ? ### Response: What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cherubism ? ### Response: How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cherubism inherited ? ### Response: If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Reactive arthritis ? ### Response: Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reactive arthritis ? ### Response: What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Omphalocele cleft palate syndrome lethal ? ### Response: What are the signs and symptoms of Omphalocele cleft palate syndrome lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? ### Response: Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? ### Response: What are the signs and symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius? Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). " "Below is an instruction from Human. Write a response. ### Instruction: Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ? ### Response: Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? ### Response: How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? ### Response: How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectrodactyly polydactyly ? ### Response: What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progeroid syndrome, Penttinen type ? ### Response: What are the signs and symptoms of Progeroid syndrome, Penttinen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome, Penttinen type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fanconi Bickel syndrome ? ### Response: Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fanconi Bickel syndrome ? ### Response: What are the signs and symptoms of Fanconi Bickel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi Bickel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fanconi Bickel syndrome ? ### Response: How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Down syndrome ? ### Response: Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Down syndrome ? ### Response: What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Down syndrome ? ### Response: What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called ""nondisjunction. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Down syndrome ? ### Response: How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the likelihood that a fetus has Down syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Down syndrome ? ### Response: How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nijmegen breakage syndrome ? ### Response: What are the signs and symptoms of Nijmegen breakage syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nijmegen breakage syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vestibulocochlear dysfunction, progressive ? ### Response: What are the signs and symptoms of Vestibulocochlear dysfunction, progressive? The Human Phenotype Ontology provides the following list of signs and symptoms for Vestibulocochlear dysfunction, progressive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ? ### Response: What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Churg Strauss syndrome ? ### Response: Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Churg Strauss syndrome ? ### Response: What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lennox-Gastaut syndrome ? ### Response: Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lennox-Gastaut syndrome ? ### Response: What are the signs and symptoms of Lennox-Gastaut syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lennox-Gastaut syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lennox-Gastaut syndrome ? ### Response: What are the signs and symptoms of Lennox-Gastaut syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lennox-Gastaut syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Heart-hand syndrome, Spanish type ? ### Response: What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gerstmann-Straussler-Scheinker disease ? ### Response: Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Gerstmann-Straussler-Scheinker disease ? ### Response: What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Gerstmann-Straussler-Scheinker disease inherited ? ### Response: How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gerstmann-Straussler-Scheinker disease ? ### Response: How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary cerebral hemorrhage with amyloidosis ? ### Response: Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins). Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary cerebral hemorrhage with amyloidosis ? ### Response: What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hereditary cerebral hemorrhage with amyloidosis ? ### Response: What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary cerebral hemorrhage with amyloidosis inherited ? ### Response: Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ? ### Response: How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fragile X syndrome ? ### Response: Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fragile X syndrome ? ### Response: What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fragile X syndrome ? ### Response: What causes fragile X syndrome? Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fragile X syndrome inherited ? ### Response: How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fragile X syndrome ? ### Response: Is genetic testing available for fragile X syndrome? Yes, genetic testing is available for fragile X syndrome. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1-related disorder (including fragile X syndrome) has been confirmed in a family member. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperthermia induced defects ? ### Response: What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratitis, hereditary ? ### Response: What are the signs and symptoms of Keratitis, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratitis, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyopathic dermatomyositis ? ### Response: Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyopathic dermatomyositis ? ### Response: What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyopathic dermatomyositis ? ### Response: What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ? ### Response: What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Syndactyly type 3 ? ### Response: Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syndactyly type 3 ? ### Response: What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Syndactyly type 3 inherited ? ### Response: How is syndactyly type 3 inherited? Syndactyly type 3 has been shown to be inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene is sufficient to cause the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene and a 50% chance of inheriting the normal gene and being unaffected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Opitz G/BBB syndrome ? ### Response: Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Opitz G/BBB syndrome ? ### Response: What causes Opitz G/BBB syndrome? The X-linked form of Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a specific protein called midline-1. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). " "Below is an instruction from Human. Write a response. ### Instruction: Is Opitz G/BBB syndrome inherited ? ### Response: How is Opitz G/BBB syndrome inherited? Opitz G/BBB syndrome often has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes (the other sex chromosome is the Y chromosome). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Opitz G/BBB syndrome ? ### Response: How is Opitz G/BBB syndrome diagnosed? The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rickets ? ### Response: Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rickets ? ### Response: What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow " "Below is an instruction from Human. Write a response. ### Instruction: What causes Rickets ? ### Response: What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because o " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Rickets ? ### Response: How is rickets diagnosed? Rickets is typically diagnosed using specific blood tests and x-rays. Blood tests usually show low levels of calcium and phosphorus and high levels of alkaline phosphatase. Bone x-rays may show areas with calcium loss or changes in bone shape. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Rickets ? ### Response: What treatment is available for rickets? The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Benign rolandic epilepsy (BRE) ? ### Response: Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as ""benign"" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Benign rolandic epilepsy (BRE) ? ### Response: What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Benign rolandic epilepsy (BRE) ? ### Response: What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance. Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Benign rolandic epilepsy (BRE) ? ### Response: What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance. Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult-onset Still's disease ? ### Response: Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult-onset Still's disease ? ### Response: What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adult-onset Still's disease ? ### Response: What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta Levin type ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carnevale syndrome ? ### Response: What are the signs and symptoms of Carnevale syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnevale syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) WAGR syndrome ? ### Response: WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of WAGR syndrome ? ### Response: What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia neuropathy poikiloderma ? ### Response: What are the signs and symptoms of Spastic paraplegia neuropathy poikiloderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia neuropathy poikiloderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary orthostatic tremor ? ### Response: Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary orthostatic tremor ? ### Response: What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Optic atrophy 1 and deafness ? ### Response: What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parkinson disease type 9 ? ### Response: What are the signs and symptoms of Parkinson disease type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Warthin tumor ? ### Response: Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Warthin tumor ? ### Response: What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Warthin tumor ? ### Response: What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Warthin tumor ? ### Response: How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar fea " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Warthin tumor ? ### Response: How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal recessive 5 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal recessive 5 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Palmer Pagon syndrome ? ### Response: What are the signs and symptoms of Palmer Pagon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmer Pagon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paroxysmal cold hemoglobinuria ? ### Response: What are the signs and symptoms of Paroxysmal cold hemoglobinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal cold hemoglobinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Keratosis follicularis spinulosa decalvans ? ### Response: Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratosis follicularis spinulosa decalvans ? ### Response: What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ? ### Response: What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sudden infant death syndrome ? ### Response: Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sudden infant death syndrome ? ### Response: What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal dominant type 2 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal dominant type 2 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular dystrophy white matter spongiosis ? ### Response: What are the signs and symptoms of Muscular dystrophy white matter spongiosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Visceral steatosis ? ### Response: What are the signs and symptoms of Visceral steatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Visceral steatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Welander distal myopathy, Swedish type ? ### Response: What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Talonavicular coalition ? ### Response: What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant optic atrophy and cataract ? ### Response: What are the signs and symptoms of Autosomal dominant optic atrophy and cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy and cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nystagmus 1, congenital, X- linked ? ### Response: What are the signs and symptoms of Nystagmus 1, congenital, X- linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 1, congenital, X- linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jansen type metaphyseal chondrodysplasia ? ### Response: What are the signs and symptoms of Jansen type metaphyseal chondrodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Jansen type metaphyseal chondrodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frontal fibrosing alopecia ? ### Response: Frontal fibrosing alopecia (FFA) is a form of lichen planus follicularis that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontal fibrosing alopecia ? ### Response: What are the signs and symptoms of frontal fibrosing alopecia? Frontal fibrosing alopecia (FFA) is characterized primarily by hair loss (alopecia) and scarring on the scalp near the forehead. The band of hair loss on the front and sides of the scalp is usually symmetrical and slowly progressive (worsening over time). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Frontal fibrosing alopecia ? ### Response: What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Frontal fibrosing alopecia ? ### Response: What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Frontal fibrosing alopecia ? ### Response: How is frontal fibrosing alopecia diagnosed? Frontal fibrosing alopecia is often suspected based on the presence of characteristic signs and symptoms. The diagnosis can be confirmed by examining a small sample of skin (skin biopsy) from the affected area. In some cases, laboratory studies may be ordered to rule out other conditions that cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hypercholesterolemia ? ### Response: Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hypercholesterolemia ? ### Response: What are the signs and symptoms of Familial hypercholesterolemia? Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include: Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. " "Below is an instruction from Human. Write a response. ### Instruction: Is Familial hypercholesterolemia inherited ? ### Response: How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Familial hypercholesterolemia ? ### Response: How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Froelich syndrome ? ### Response: Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Froelich syndrome ? ### Response: What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Froelich syndrome ? ### Response: What causes Froelich syndrome? Froehlich syndrome is usually caused by lesions in the hypothalamic gland or pituitary gland. The lesions may be caused by a tumor (e.g., craniopharyngioma), swelling from an infection (e.g., tuberculosis), encephalitis, or other brain injuries. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Froelich syndrome ? ### Response: How might Froelich syndrome be diagnosed? Diagnosis of Froelich syndrome may be difficult and requires cautious and thoughtful clinical examination, testing urine for low levels of pituitary hormones, and likely other additional tests before a definitive diagnosis of Froehlich syndrome can be made. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tracheobronchopathia osteoplastica ? ### Response: Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tracheobronchopathia osteoplastica ? ### Response: What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tracheobronchopathia osteoplastica ? ### Response: What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tracheobronchopathia osteoplastica inherited ? ### Response: Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tracheobronchopathia osteoplastica ? ### Response: How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tracheobronchopathia osteoplastica ? ### Response: How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inflammatory linear verrucous epidermal nevus ? ### Response: Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Olmsted syndrome ? ### Response: Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Olmsted syndrome ? ### Response: What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nablus mask-like facial syndrome ? ### Response: Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nablus mask-like facial syndrome ? ### Response: What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pretibial epidermolysis bullosa ? ### Response: Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the ""pretibial region""). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pretibial epidermolysis bullosa ? ### Response: What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Malignant hyperthermia arthrogryposis torticollis ? ### Response: What are the signs and symptoms of Malignant hyperthermia arthrogryposis torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia arthrogryposis torticollis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ABCD syndrome ? ### Response: What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ? ### Response: What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal dominant partial epilepsy with auditory features ? ### Response: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant partial epilepsy with auditory features ? ### Response: What are the signs and symptoms of Autosomal dominant partial epilepsy with auditory features? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant partial epilepsy with auditory features. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? ### Response: What are the signs and symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive external ophthalmoplegia, autosomal recessive 1 . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked congenital stationary night blindness ? ### Response: X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked congenital stationary night blindness ? ### Response: What are the signs and symptoms of X-linked congenital stationary night blindness? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked congenital stationary night blindness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose X-linked congenital stationary night blindness ? ### Response: Is genetic testing available for X-linked congenital stationary night blindness? Yes. About 45% of individuals with XLCSNB have the complete form, which is caused by mutations in the NYX gene. The other 55% have the incomplete form, which is caused by mutations in the CACNA1F gene. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Myelodysplastic/myeloproliferative disease ? ### Response: What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acquired pure red cell aplasia ? ### Response: Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acquired pure red cell aplasia ? ### Response: How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ewing sarcoma ? ### Response: Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ewing sarcoma ? ### Response: What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ewing sarcoma ? ### Response: What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcoma tumors, involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ewing sarcoma inherited ? ### Response: Is Ewing sarcoma an inherited condition? This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception (somatic mutation). Most cases are considered to be sporadic. However, the incidence of neuroectodermal and stomach malignancies is increased among family members of patients with tumors of the Ewing sarcoma family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brugada syndrome 4 ? ### Response: What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gollop Coates syndrome ? ### Response: What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lassueur-Graham-Little syndrome ? ### Response: What are the signs and symptoms of Lassueur-Graham-Little syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Galactosialidosis ? ### Response: Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Galactosialidosis ? ### Response: What are the signs and symptoms of Galactosialidosis? The early infantile form of galactosialidosis is associated with hydrops fetalis, inguinal hernia, and hepatosplenomegaly. Additional features include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coarse. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Galactosialidosis ? ### Response: What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. " "Below is an instruction from Human. Write a response. ### Instruction: Is Galactosialidosis inherited ? ### Response: How is galactosialidosis inherited? Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Galactosialidosis ? ### Response: How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypomandibular faciocranial dysostosis ? ### Response: What are the signs and symptoms of Hypomandibular faciocranial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomandibular faciocranial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fucosidosis type 1 ? ### Response: What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2N ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 2 ? ### Response: What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Protein C deficiency ? ### Response: Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Protein C deficiency ? ### Response: What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Protein C deficiency ? ### Response: What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. " "Below is an instruction from Human. Write a response. ### Instruction: Is Protein C deficiency inherited ? ### Response: How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or father. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Protein C deficiency ? ### Response: How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver or kidney or the blood vessels of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Protein C deficiency ? ### Response: How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 6 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple myeloma ? ### Response: Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple myeloma ? ### Response: What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple myeloma ? ### Response: What causes multiple myeloma? Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chondrocalcinosis 2 ? ### Response: Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrocalcinosis 2 ? ### Response: What are the signs and symptoms of Chondrocalcinosis 2? The signs and symptoms of chondrocalcinosis 2 vary from person to person. Some affected people may not have any symptoms of the condition aside from the appearance of calcium deposits on joint x-rays. Others experience chronic pain in affected joints and/or the back if calcium deposits develop around the bones of the spine. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chondrocalcinosis 2 ? ### Response: What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to accumulate in the cartilage of joints. " "Below is an instruction from Human. Write a response. ### Instruction: Is Chondrocalcinosis 2 inherited ? ### Response: Is chondrocalcinosis 2 inherited? Chondrocalcinosis 2 is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chondrocalcinosis 2 ? ### Response: How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determine if calcium pyrophosphate dihydrate crystals are present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chondrocalcinosis 2 ? ### Response: How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Accessory deep peroneal nerve ? ### Response: What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital myasthenic syndrome inherited ? ### Response: How is congenital myasthenic syndrome inherited? Almost all types of CMS are inherited in an autosomal recessive manner. In order to have the autosomal recessive form of CMS, both parents of an affected individual must be carriers of the disease causing mutation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fitz-Hugh-Curtis syndrome ? ### Response: Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fitz-Hugh-Curtis syndrome ? ### Response: How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Temporal epilepsy, familial ? ### Response: What are the signs and symptoms of Temporal epilepsy, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Temporal epilepsy, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity ? ### Response: What are the signs and symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrauterine growth retardation with increased mitomycin C sensitivity. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemophagocytic lymphohistiocytosis ? ### Response: Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemophagocytic lymphohistiocytosis ? ### Response: What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hemophagocytic lymphohistiocytosis ? ### Response: What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulate the immune system. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hemophagocytic lymphohistiocytosis inherited ? ### Response: Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemophagocytic lymphohistiocytosis ? ### Response: Is genetic testing available for hemophagocytic lymphohistiocytosis? Yes. Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types 2-5. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemophagocytic lymphohistiocytosis ? ### Response: How might hemophagocytic lymphohistiocytosis be treated? The best treatment options for hemophagocytic lymphohistiocytosis (HLH) are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vohwinkel syndrome ? ### Response: What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arthrogryposis, distal, type 2E ? ### Response: What are the signs and symptoms of Arthrogryposis, distal, type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, type 2E. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fuchs endothelial corneal dystrophy ? ### Response: Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. " "Below is an instruction from Human. Write a response. ### Instruction: Is Fuchs endothelial corneal dystrophy inherited ? ### Response: How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22 ? ### Response: What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 22. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of His bundle tachycardia ? ### Response: What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 15q11.2 microdeletion ? ### Response: What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 15q11.2 microdeletion ? ### Response: What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prosopagnosia, hereditary ? ### Response: What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ? ### Response: What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 26 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 26. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atrial myxoma, familial ? ### Response: What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Iridocorneal endothelial syndrome ? ### Response: What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Iridocorneal endothelial syndrome ? ### Response: How might iridocorneal endothelial (ICE) syndrome be treated? It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked intellectual disability, Najm type ? ### Response: What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coenzyme Q10 deficiency ? ### Response: What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2B1 ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B1? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Upington disease ? ### Response: What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kawasaki syndrome ? ### Response: Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kawasaki syndrome ? ### Response: What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kawasaki syndrome ? ### Response: What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Kawasaki syndrome ? ### Response: What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kawasaki syndrome ? ### Response: How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GM1 gangliosidosis ? ### Response: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GM1 gangliosidosis ? ### Response: What are the signs and symptoms of GM1 gangliosidosis? There are three general types of GM1 gangliosidosis, which differ in severity but can have considerable overlap of signs and symptoms. Classic infantile (type 1) GM1 gangliosidosis is the most severe type, with onset shortly after birth (usually within 6 months of age). " "Below is an instruction from Human. Write a response. ### Instruction: What causes GM1 gangliosidosis ? ### Response: What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is GM1 gangliosidosis inherited ? ### Response: How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose GM1 gangliosidosis ? ### Response: Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for GM1 gangliosidosis ? ### Response: How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) GRACILE syndrome ? ### Response: GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the urine (aminoaciduria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GRACILE syndrome ? ### Response: What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal dysplasia-limb defects syndrome ? ### Response: What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Preaxial polydactyly type 1 ? ### Response: What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemophilia ? ### Response: Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 28 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 28? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 28. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fallot complex with severe mental and growth retardation ? ### Response: What are the signs and symptoms of Fallot complex with severe mental and growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Fallot complex with severe mental and growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) WaterhouseFriderichsen syndrome ? ### Response: WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of WaterhouseFriderichsen syndrome ? ### Response: What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What causes WaterhouseFriderichsen syndrome ? ### Response: What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroacanthocytosis ? ### Response: Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neuroacanthocytosis ? ### Response: How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lenz microphthalmia syndrome ? ### Response: Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body. Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lenz microphthalmia syndrome ? ### Response: What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Denys-Drash syndrome ? ### Response: Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Denys-Drash syndrome ? ### Response: What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Denys-Drash syndrome ? ### Response: What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is Denys-Drash syndrome inherited ? ### Response: Is Denys-Drash syndrome inherited? Denys-Drash syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microcephalic osteodysplastic primordial dwarfism type 1 ? ### Response: Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ? ### Response: What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ? ### Response: What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. " "Below is an instruction from Human. Write a response. ### Instruction: Is Microcephalic osteodysplastic primordial dwarfism type 1 inherited ? ### Response: How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Microcephalic osteodysplastic primordial dwarfism type 1 ? ### Response: How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transient bullous dermolysis of the newborn ? ### Response: What are the signs and symptoms of Transient bullous dermolysis of the newborn? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient bullous dermolysis of the newborn. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inclusion body myositis ? ### Response: Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Inclusion body myositis ? ### Response: What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neonatal adrenoleukodystrophy ? ### Response: What are the signs and symptoms of Neonatal adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 11 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polymyositis ? ### Response: Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polymyositis ? ### Response: What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Polymyositis ? ### Response: How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cutaneous mastocytosis ? ### Response: Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cutaneous mastocytosis ? ### Response: What are the signs and symptoms of Cutaneous mastocytosis? Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cutaneous mastocytosis ? ### Response: What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cutaneous mastocytosis inherited ? ### Response: Is cutaneous mastocytosis inherited? Most cases of cutaneous mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cutaneous mastocytosis ? ### Response: How is cutaneous mastocytosis diagnosed? A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cutaneous mastocytosis ? ### Response: How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polyarteritis nodosa ? ### Response: Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, and abdominal pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polyarteritis nodosa ? ### Response: What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Polyarteritis nodosa ? ### Response: How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia intellectual disability syndrome 2 ? ### Response: What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Permanent neonatal diabetes mellitus ? ### Response: Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Permanent neonatal diabetes mellitus ? ### Response: What are the signs and symptoms of Permanent neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypohidrotic ectodermal dysplasia ? ### Response: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hypohidrotic ectodermal dysplasia ? ### Response: Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypohidrotic ectodermal dysplasia ? ### Response: How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 1 ? ### Response: What are the signs and symptoms of Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nasopharyngeal carcinoma ? ### Response: What are the signs and symptoms of Nasopharyngeal carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasopharyngeal carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meningioma ? ### Response: Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Meningioma ? ### Response: How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nemaline myopathy ? ### Response: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple pterygium syndrome X-linked ? ### Response: What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of De Sanctis-Cacchione syndrome ? ### Response: What are the signs and symptoms of De Sanctis-Cacchione syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Sanctis-Cacchione syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chylomicron retention disease ? ### Response: What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Meckel syndrome type 3 ? ### Response: What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Guanidinoacetate methyltransferase deficiency ? ### Response: Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Guanidinoacetate methyltransferase deficiency ? ### Response: What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Triple A syndrome ? ### Response: Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Triple A syndrome ? ### Response: What are the signs and symptoms of Triple A syndrome? Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Triple A syndrome ? ### Response: What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is Triple A syndrome inherited ? ### Response: How is triple A syndrome inherited? Triple A syndrome is inherited in an autosomal recessive pattern,which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as ""carriers"" but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Triple A syndrome ? ### Response: How might triple A syndrome be treated? There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by replacement of glucocorticoids. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ramos Arroyo Clark syndrome ? ### Response: What are the signs and symptoms of Ramos Arroyo Clark syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ramos Arroyo Clark syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 23 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 23. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudoaminopterin syndrome ? ### Response: What are the signs and symptoms of Pseudoaminopterin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoaminopterin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 15q13.3 microduplication syndrome ? ### Response: 15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe congenital neutropenia X-linked ? ### Response: What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Factor XI deficiency ? ### Response: Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Factor XI deficiency ? ### Response: What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Game Friedman Paradice syndrome ? ### Response: What are the signs and symptoms of Game Friedman Paradice syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Game Friedman Paradice syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypocalcemia, autosomal dominant ? ### Response: What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dentatorubral-pallidoluysian atrophy ? ### Response: Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dentatorubral-pallidoluysian atrophy ? ### Response: What are the signs and symptoms of Dentatorubral-pallidoluysian atrophy? The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellectual disability; and problems with balance and coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dentatorubral-pallidoluysian atrophy ? ### Response: What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Dentatorubral-pallidoluysian atrophy ? ### Response: What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Snyder-Robinson syndrome ? ### Response: Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Snyder-Robinson syndrome ? ### Response: What are the signs and symptoms of Snyder-Robinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Snyder-Robinson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulnar hypoplasia lobster claw deformity of feet ? ### Response: What are the signs and symptoms of Ulnar hypoplasia lobster claw deformity of feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar hypoplasia lobster claw deformity of feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Retroperitoneal fibrosis ? ### Response: Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs are blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause chronic unilateral obstructive uropathy or chronic bilateral obstructive uropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Retroperitoneal fibrosis ? ### Response: What causes retroperitoneal fibrosis? The cause of retroperitoneal fibrosis is unknown in many cases (idiopathic). Some cases occur in association with other factors, including: Asbestos exposure Smoking Neoplasms (tumor) Infections Trauma Radiotherapy Surg " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Retroperitoneal fibrosis ? ### Response: How might retroperitoneal fibrosis be treated? Treatment of retroperitoneal fibrosis may include: Corticosteroid therapy Tamoxifen Surgery Stents Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wernicke-Korsakoff syndrome ? ### Response: Wernicke-Korsakoff syndrome is a brain disorder due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. Wernicke's encephalopathy can result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wernicke-Korsakoff syndrome ? ### Response: What are the signs and symptoms of Wernicke-Korsakoff syndrome? The symptoms of Wernicke encephalopathy include mental confusion, vision problems (including double vision, abnormal eye movements, and eyelid drooping), inability to think clearly, coma, hypothermia, hypotension, and loss of muscle coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wernicke-Korsakoff syndrome ? ### Response: What are the signs and symptoms of Wernicke-Korsakoff syndrome? The symptoms of Wernicke encephalopathy include mental confusion, vision problems (including double vision, abnormal eye movements, and eyelid drooping), inability to think clearly, coma, hypothermia, hypotension, and loss of muscle coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked lymphoproliferative syndrome 1 ? ### Response: What are the signs and symptoms of X-linked lymphoproliferative syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? ### Response: What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemochromatosis type 1 ? ### Response: Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemochromatosis type 1 ? ### Response: What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemochromatosis type 1 ? ### Response: How might hemochromatosis type 1 be treated? Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complications of hemochromatosis, and maintain normal amounts of iron throughout the lifetime. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pachygyria ? ### Response: Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as ""incomplete lissencephaly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pachygyria ? ### Response: What are the signs and symptoms of pachygyria? Signs and symptoms of pachygyria vary among affected people and can depend on the extent of the abnormality. They often include poor muscle tone and motor function; seizures; developmental delays; intellectual disability; failure to grow and thrive; difficulties with feeding or swallowing; swelling in the extremities; and small head size (microcephaly). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pachygyria ? ### Response: How might pachygyria be treated? Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Homocystinuria ? ### Response: Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thyroid cancer, follicular ? ### Response: What are the signs and symptoms of Thyroid cancer, follicular? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid cancer, follicular. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cranioacrofacial syndrome ? ### Response: What are the signs and symptoms of Cranioacrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cranioacrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Squamous cell carcinoma of the head and neck ? ### Response: Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kluver Bucy syndrome ? ### Response: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Minicore myopathy with external ophthalmoplegia ? ### Response: What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aberrant subclavian artery ? ### Response: Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thalamic degeneration symmetrical infantile ? ### Response: What are the signs and symptoms of Thalamic degeneration symmetrical infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration symmetrical infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aganglionosis, total intestinal ? ### Response: What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alopecia universalis ? ### Response: Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia universalis ? ### Response: What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alopecia universalis ? ### Response: What causes alopecia universalis? The exact underlying cause of alopecia universalis (AU) is not currently known. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. AA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alopecia universalis inherited ? ### Response: Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited. " "Below is an instruction from Human. Write a response. ### Instruction: Is Alopecia universalis inherited ? ### Response: Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alopecia universalis ? ### Response: How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism ? ### Response: What are the signs and symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hamartomas nephroblastomatosis and fetal gigantism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ? ### Response: What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal recessive 2 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal recessive 2 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal recessive 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isotretinoin embryopathy like syndrome ? ### Response: What are the signs and symptoms of Isotretinoin embryopathy like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Isotretinoin embryopathy like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nevoid basal cell carcinoma syndrome ? ### Response: Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nevoid basal cell carcinoma syndrome ? ### Response: What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nevoid basal cell carcinoma syndrome inherited ? ### Response: How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nevoid basal cell carcinoma syndrome ? ### Response: How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Non 24 hour sleep wake disorder ? ### Response: Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Non 24 hour sleep wake disorder ? ### Response: What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achromatopsia 3 ? ### Response: What are the signs and symptoms of Achromatopsia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Achromatopsia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of IMAGe syndrome ? ### Response: What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperkalemic periodic paralysis ? ### Response: Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperkalemic periodic paralysis ? ### Response: What are the signs and symptoms of Hyperkalemic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectodermal dysplasia adrenal cyst ? ### Response: What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Long QT syndrome 8 ? ### Response: Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Long QT syndrome 8 ? ### Response: What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marfanoid hypermobility syndrome ? ### Response: What are the signs and symptoms of Marfanoid hypermobility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marfanoid hypermobility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Melioidosis ? ### Response: Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cornelia de Lange syndrome ? ### Response: Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cornelia de Lange syndrome ? ### Response: What causes Cornelia de Lange syndrome? Most cases (approximately 65%) of Cornelia de Lange syndrome (CdLS) are caused by changes (mutations) in the NIPBL gene. An additional 5% of people affected by the condition have mutations in one of four known genes (SMC1A, SMC3, HDAC8 and RAD21). " "Below is an instruction from Human. Write a response. ### Instruction: Is Cornelia de Lange syndrome inherited ? ### Response: Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no family history of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cornelia de Lange syndrome ? ### Response: How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cornelia de Lange syndrome ? ### Response: How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Patent ductus venosus ? ### Response: What are the signs and symptoms of Patent ductus venosus? The Human Phenotype Ontology provides the following list of signs and symptoms for Patent ductus venosus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 6 ? ### Response: What are the signs and symptoms of Spastic paraplegia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diffuse panbronchiolitis ? ### Response: What are the signs and symptoms of Diffuse panbronchiolitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse panbronchiolitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dandy-Walker like malformation with atrioventricular septal defect ? ### Response: What are the signs and symptoms of Dandy-Walker like malformation with atrioventricular septal defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker like malformation with atrioventricular septal defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Atrial septal defect ostium primum ? ### Response: What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphatic filariasis ? ### Response: Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lymphatic filariasis ? ### Response: How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult worm. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Feingold syndrome ? ### Response: What are the signs and symptoms of Feingold syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Feingold syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebral sarcoma ? ### Response: What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Antecubital pterygium ? ### Response: Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Antecubital pterygium ? ### Response: What are the signs and symptoms of Antecubital pterygium? The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thompson Baraitser syndrome ? ### Response: What are the signs and symptoms of Thompson Baraitser syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thompson Baraitser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Enthesitis-related juvenile idiopathic arthritis ? ### Response: Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Enthesitis-related juvenile idiopathic arthritis ? ### Response: What are the signs and symptoms of Enthesitis-related juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Enthesitis-related juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? ### Response: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? ### Response: What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in the adrenal glands. " "Below is an instruction from Human. Write a response. ### Instruction: Is Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited ? ### Response: Is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? ### Response: How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? ### Response: How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Central serous chorioretinopathy ? ### Response: Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hand and foot deformity with flat facies ? ### Response: What are the signs and symptoms of Hand and foot deformity with flat facies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hand and foot deformity with flat facies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Budd-Chiari syndrome ? ### Response: Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction of the veins of the liver. This narrowing or obstruction slows or prevents blood from flowing out of the liver and back to the heart which can lead to liver damage. While some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Budd-Chiari syndrome ? ### Response: What are the signs and symptoms of Budd-Chiari syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Budd-Chiari syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation ? ### Response: What are the signs and symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, late-onset localized junctional, with mental retardation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Uropathy distal obstructive polydactyly ? ### Response: What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hanhart syndrome ? ### Response: Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hanhart syndrome ? ### Response: What causes Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hanhart syndrome ? ### Response: What causes Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hanhart syndrome ? ### Response: How is Hanhart syndrome treated? Because Hanhart syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies because it depends on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyloidosis familial visceral ? ### Response: What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ? ### Response: What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nonbullous congenital ichthyosiform erythroderma ? ### Response: Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nonbullous congenital ichthyosiform erythroderma ? ### Response: What are the signs and symptoms of Nonbullous congenital ichthyosiform erythroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nonbullous congenital ichthyosiform erythroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nonbullous congenital ichthyosiform erythroderma ? ### Response: How might nonbullous congenital ichthyosiform erythroderma be treated? There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2O ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pigmented purpuric eruption ? ### Response: Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pigmented purpuric eruption ? ### Response: What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pigmented purpuric eruption ? ### Response: What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pigmented purpuric eruption ? ### Response: What treatment is available for pigmented purpuric eruption? There is no treatment that has been proven to be beneficial for people with pigmented purpuric eruption. However, some treatments have been reported to improve this condition, including pentoxifylline, aminaphtone, and photochemotherapy (PUVA). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cowden syndrome ? ### Response: Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cowden syndrome ? ### Response: What are the signs and symptoms of Cowden syndrome? Cowden syndrome is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. Approximately 99% of people affected by Cowden syndrome will have benign growths on the skin and/or in the mouth by the third decade of life. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cowden syndrome ? ### Response: What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cowden syndrome inherited ? ### Response: How is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cowden syndrome ? ### Response: How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cause Cowden syndrome can be considered. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Uhl anomaly ? ### Response: What are the signs and symptoms of Uhl anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uhl anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Roberts syndrome ? ### Response: What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Roberts syndrome ? ### Response: How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ? ### Response: What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary lymphedema type II ? ### Response: Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary lymphedema type II ? ### Response: What are the signs and symptoms of Hereditary lymphedema type II? Hereditary lymphedema type II is characterized by the abnormal transport of lymph fluid. This causes the lymph fluid to build up, causing swelling (lymphedema). Individuals with hereditary lymphedema type II usually develop swelling in the lower legs and feet during puberty. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hereditary lymphedema type II ? ### Response: What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with this type of lymphedema. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hereditary lymphedema type II inherited ? ### Response: How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected family member, in most cases, a parent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 5 ? ### Response: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 5 ? ### Response: What are the signs and symptoms of Aicardi-Goutieres syndrome type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher syndrome, type 2C ? ### Response: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Usher syndrome, type 2C ? ### Response: What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Usher syndrome, type 2C inherited ? ### Response: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary angiitis of the central nervous system ? ### Response: Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary angiitis of the central nervous system ? ### Response: How might primary angiitis of the central nervous system be treated? The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Santos Mateus Leal syndrome ? ### Response: What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher syndrome, type 1C ? ### Response: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Usher syndrome, type 1C ? ### Response: What are the signs and symptoms of Usher syndrome, type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Usher syndrome, type 1C inherited ? ### Response: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bilateral generalized polymicrogyria ? ### Response: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ? ### Response: What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Subacute cerebellar degeneration ? ### Response: Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Subacute cerebellar degeneration ? ### Response: What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Subacute cerebellar degeneration ? ### Response: What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tietz syndrome ? ### Response: Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietz syndrome ? ### Response: What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tietz syndrome ? ### Response: How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Split hand urinary anomalies spina bifida ? ### Response: What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease ? ### Response: What are the signs and symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sclerosis similar to Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Twin twin transfusion syndrome ? ### Response: Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood, and increased blood pressure, resulting in an increased risk for heart failure. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute intermittent porphyria ? ### Response: Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acute intermittent porphyria ? ### Response: What are the signs and symptoms of Acute intermittent porphyria? Some people who inherit the gene for AIP never develop symptoms and are said to have ""latent"" AIP. Those individuals that present with symptoms usually do so after puberty, probably because of hormonal influences, although other activating factors include: alcohol, drugs (e. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Acute intermittent porphyria ? ### Response: What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Acute intermittent porphyria ? ### Response: What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Acute intermittent porphyria ? ### Response: How is acute intermittent porphyria (AIP) diagnosed? Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Acute intermittent porphyria ? ### Response: How might acute intermittent porphyria (AIP) be treated? Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen the symptoms, treating any infections which may be present, administration of pain medication, monitoring fluid balance and/or correcting electrolyte disturbances, monitoring neurologic status and administering respiratory support. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyotrophic lateral sclerosis type 6 ? ### Response: What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebrotendinous xanthomatosis ? ### Response: What are the signs and symptoms of Cerebrotendinous xanthomatosis? The symptoms associated cerebrotendinous xanthomatosis are listed below, including the typical age when each symptom appears. Chronic diarrhea (infancy) Cataracts (early childhood) Mental impairment (infancy or at puberty) Xanthomas (adolescents to early adulthood) Dementia with slow deterioration in intellectual abilities (early adulthood) Spasticity (early adulthood) Cerebellar signs such as intention tremor, difficulty with fast hand movements, nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood) Behavioral changes (early adulthood) Hallucinations (early adulthood) Agitation (early adulthood) Aggression (early adulthood) Depression (early adulthood) Suicide attempt (early adulthood) Other symptoms may include dystonia, atypical parkinsonism, seizures, and peripheral neuropathy. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cerebrotendinous xanthomatosis ? ### Response: Is genetic testing available for cerebrotendinous xanthomatosis? Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition. How is cerebrotendinous xanthomatosis diagnosed? Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerebrotendinous xanthomatosis ? ### Response: How might cerebrotendinous xanthomatosis be treated? Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinoschisis autosomal dominant ? ### Response: What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is SHORT syndrome inherited ? ### Response: How is SHORT syndrome inherited? SHORT syndrome is inherited in an autosomal dominant pattern. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose SHORT syndrome ? ### Response: How is SHORT syndrome diagnosed? There is no formal criteria for diagnosis yet. The term SHORT syndrome was first created to reflect several of the features of the original reported cases: Short stature, Hyperextensibility, Ocular depression (deeply set eyes), Rieger anomaly, and Teething delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Caudal appendage deafness ? ### Response: What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ? ### Response: What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation X-linked, South African type ? ### Response: What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marden-Walker syndrome ? ### Response: Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marden-Walker syndrome ? ### Response: What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Marden-Walker syndrome ? ### Response: What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases. " "Below is an instruction from Human. Write a response. ### Instruction: Is Marden-Walker syndrome inherited ? ### Response: Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Marden-Walker syndrome ? ### Response: How might Marden-Walker syndrome be treated? Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a physical medicine specialist. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cone dystrophy ? ### Response: Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone dystrophy ? ### Response: What are the signs and symptoms of Cone dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cone dystrophy ? ### Response: How is cone dystrophy diagnosed? The diagnosis of cone dystrophy is made based upon the presence of characteristic symptoms, a detailed family history, a thorough clinical evaluation and a number of supporting tests. While exams that measure visual acuity, perception of color, and field of vision are used to arrive at a proper diagnosis, an electroretinogram (ERG) is used to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lysinuric protein intolerance ? ### Response: Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lysinuric protein intolerance ? ### Response: What are the signs and symptoms of Lysinuric protein intolerance? The Human Phenotype Ontology provides the following list of signs and symptoms for Lysinuric protein intolerance. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amish infantile epilepsy syndrome ? ### Response: What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Takayasu arteritis ? ### Response: Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Takayasu arteritis ? ### Response: What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Warfarin syndrome ? ### Response: What are the signs and symptoms of Warfarin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile dermatomyositis ? ### Response: Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile dermatomyositis ? ### Response: What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urachal cancer ? ### Response: Urachal cancer is a rare type of bladder cancer, making up less than 1% of all bladder cancers. Only about 350 cases have been described in the medical literature to date. The urachus is a primitive structure which before birth connected the bellybutton and the bladder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Urachal cancer ? ### Response: How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial joint instability syndrome ? ### Response: What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Macular dystrophy, concentric annular ? ### Response: What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Papillary renal cell carcinoma ? ### Response: Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Papillary renal cell carcinoma ? ### Response: What are the signs and symptoms of Papillary renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Book syndrome ? ### Response: What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair. " "Below is an instruction from Human. Write a response. ### Instruction: Is Book syndrome inherited ? ### Response: How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Book syndrome ? ### Response: How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/or teeth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schizencephaly ? ### Response: Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schizencephaly ? ### Response: What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Schizencephaly ? ### Response: What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Schizencephaly ? ### Response: What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schizencephaly ? ### Response: How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trichorhinophalangeal syndrome type 1 ? ### Response: Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichorhinophalangeal syndrome type 1 ? ### Response: What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked Charcot-Marie-Tooth disease type 5 ? ### Response: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ? ### Response: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphocytic vasculitis ? ### Response: Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphocytic vasculitis ? ### Response: What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms. Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lymphocytic vasculitis ? ### Response: What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis. Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has yet to be assembled. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Reynolds syndrome ? ### Response: Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reynolds syndrome ? ### Response: What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bethlem myopathy ? ### Response: Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bethlem myopathy ? ### Response: What are the signs and symptoms of Bethlem myopathy? Bethlem myopathy mainly affects skeletal muscles, the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Bethlem myopathy ? ### Response: What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. " "Below is an instruction from Human. Write a response. ### Instruction: Is Bethlem myopathy inherited ? ### Response: How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Bethlem myopathy ? ### Response: How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Panhypopituitarism X-linked ? ### Response: What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dopamine beta hydroxylase deficiency ? ### Response: What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mondini dysplasia ? ### Response: Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing loss, although most individuals have profound hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mondini dysplasia ? ### Response: What are the signs and symptoms of Mondini dysplasia? Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mondini dysplasia ? ### Response: What causes Mondini dysplasia? The underlying cause of Mondini dysplasia (MD) in most individuals appears to remain unclear. Some have suggested that retinoids (vitamin A) or other factors a fetus may be exposed to early in pregnancy have contributed to some cases of isolated MD (occurring with no other abnormalities). " "Below is an instruction from Human. Write a response. ### Instruction: Is Mondini dysplasia inherited ? ### Response: Is Mondini dysplasia inherited? Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndrome, Fountain syndrome, Johanson-Blizzard syndrome, and some chromosomal trisomies. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mondini dysplasia ? ### Response: Is genetic testing available for Mondini dysplasia? Genetic testing may be available for Mondini dysplasia if it is associated with a specific syndrome for which genetic testing is available, or if a mutation has previously been identified in an affected individual in the family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mondini dysplasia ? ### Response: How might Mondini dysplasia be treated? Surgery to repair the defect present with Mondini dysplasia is typically necessary to prevent recurrent meningitis. Prophylactic antimicrobial therapy (such as antibiotics) to prevent infection and conjugate pneumococcal vaccination are helpful in reducing the formation of bacteria in affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glycogen storage disease type 6 ? ### Response: Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 6 ? ### Response: What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ? ### Response: What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Holocarboxylase synthetase deficiency ? ### Response: What are the signs and symptoms of Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metaphyseal chondrodysplasia Spahr type ? ### Response: What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dermatofibrosarcoma protuberans ? ### Response: Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermatofibrosarcoma protuberans ? ### Response: What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cap myopathy ? ### Response: Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 8p23.1 deletion ? ### Response: What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chanarin-Dorfman syndrome ? ### Response: Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chanarin-Dorfman syndrome ? ### Response: What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylocostal dysostosis 3 ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylocostal dysostosis 3 ? ### Response: What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Serpiginous choroiditis ? ### Response: Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Serpiginous choroiditis ? ### Response: What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Serpiginous choroiditis ? ### Response: What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Serpiginous choroiditis ? ### Response: Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Facio thoraco genital syndrome ? ### Response: What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Buschke Lowenstein tumor ? ### Response: Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital myasthenic syndrome with episodic apnea ? ### Response: What are the signs and symptoms of Congenital myasthenic syndrome with episodic apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome with episodic apnea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia syndromic 8 ? ### Response: What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type ? ### Response: What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gracile bone dysplasia ? ### Response: What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infantile-onset ascending hereditary spastic paralysis ? ### Response: Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ? ### Response: What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polyembryoma ? ### Response: Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Polyembryoma ? ### Response: How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal dominant type 1 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal dominant type 1 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Maffucci syndrome ? ### Response: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maffucci syndrome ? ### Response: What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Maffucci syndrome ? ### Response: How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculocutaneous albinism type 3 ? ### Response: What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hirschsprung disease type 3 ? ### Response: What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Verloes Bourguignon syndrome ? ### Response: What are the signs and symptoms of Verloes Bourguignon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloes Bourguignon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sabinas brittle hair syndrome ? ### Response: What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrocephalopolydactylous dysplasia ? ### Response: What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) X-linked creatine deficiency ? ### Response: X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked creatine deficiency ? ### Response: What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone-rod dystrophy X-linked 2 ? ### Response: What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber congenital amaurosis 16 ? ### Response: What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mesomelia-synostoses syndrome ? ### Response: What are the signs and symptoms of Mesomelia-synostoses syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelia-synostoses syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ? ### Response: What are the signs and symptoms of Seres-Santamaria Arimany Muniz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract, posterior polar, 1 ? ### Response: What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ? ### Response: What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth type 1 aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carnosinemia ? ### Response: What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type C ? ### Response: What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nance-Horan syndrome ? ### Response: Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nance-Horan syndrome ? ### Response: What are the signs and symptoms of Nance-Horan syndrome? The main features of Nance-Horan syndrome include congenital cataracts, dental abnormalities, distinctive facial features, and in some cases, intellectual disability. In affected males, the primary physical characteristic is the presence of dense clouding of the lens (cornea) of both eyes at birth (congenital bilateral cataracts). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nance-Horan syndrome ? ### Response: What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nance-Horan syndrome inherited ? ### Response: How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diffuse palmoplantar keratoderma, Bothnian type ? ### Response: What are the signs and symptoms of Diffuse palmoplantar keratoderma, Bothnian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse palmoplantar keratoderma, Bothnian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intellectual deficit - short stature - hypertelorism ? ### Response: What are the signs and symptoms of Intellectual deficit - short stature - hypertelorism? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual deficit - short stature - hypertelorism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa acquisita ? ### Response: What are the signs and symptoms of Epidermolysis bullosa acquisita? Symptoms of epidermolysis bullosa acquisita (EBA) usually occur in a person's 30s or 40s. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Epidermolysis bullosa acquisita ? ### Response: What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in ""anchoring"" the skin. " "Below is an instruction from Human. Write a response. ### Instruction: Is Epidermolysis bullosa acquisita inherited ? ### Response: Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. " "Below is an instruction from Human. Write a response. ### Instruction: Is Epidermolysis bullosa acquisita inherited ? ### Response: Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 17 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Omenn syndrome ? ### Response: Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Omenn syndrome ? ### Response: What are the signs and symptoms of Omenn syndrome? Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive often precede the onset of infections. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Omenn syndrome ? ### Response: What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Omenn syndrome ? ### Response: How might Omenn syndrome be treated? The standard treatment for Omenn syndrome is bone marrow transplantation or cord blood stem cell transplantation. General care for any patient with severe combined immunodeficiency (SCID), including Omenn syndrome, includes isolation to prevent infection and meticulous skin and mucosal hygienic practices while the patient is awaiting stem cell reconstitution. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eosinophilic enteropathy ? ### Response: Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Eosinophilic enteropathy ? ### Response: What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach cramps, bleeding, nausea, vomiting, loss of appetite, blood loss in stools, and choking. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Eosinophilic enteropathy ? ### Response: How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Eosinophilic enteropathy ? ### Response: How might eosinophilic enteropathy be treated? There is no ""cure"" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medical problems the child or adult may have. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Benign multicystic peritoneal mesothelioma ? ### Response: Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Benign multicystic peritoneal mesothelioma ? ### Response: How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moyamoya disease ? ### Response: Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name ""moyamoya"" means ""puff of smoke"" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Moyamoya disease ? ### Response: What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Moyamoya disease ? ### Response: What causes Moyamoya disease? In some families, risk for moyamoya disease is inherited. Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condition's development in these families. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Moyamoya disease ? ### Response: How might Moyamoya disease be treated? Treatment for Moyamoya disease should begin early in the disease course to prevent severe complications. Surgery is the mainstay of treatment, and is the only viable long-term treatment. There are several types of revascularization surgeries that can restore blood flow to the brain by opening narrowed blood vessels, or by bypassing blocked arteries. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corpus callosum agenesis double urinary collecting ? ### Response: What are the signs and symptoms of Corpus callosum agenesis double urinary collecting? The Human Phenotype Ontology provides the following list of signs and symptoms for Corpus callosum agenesis double urinary collecting. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gorham's disease ? ### Response: Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gorham's disease ? ### Response: What are the signs and symptoms of Gorham's disease? Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gorham's disease ? ### Response: How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Progressive multifocal leukoencephalopathy ? ### Response: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Progressive multifocal leukoencephalopathy ? ### Response: How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anal sphincter dysplasia ? ### Response: What are the signs and symptoms of Anal sphincter dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anal sphincter dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Legius syndrome ? ### Response: What are the signs and symptoms of Legius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Legius syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) HAIR-AN syndrome ? ### Response: HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muir-Torre syndrome ? ### Response: Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muir-Torre syndrome ? ### Response: What are the signs and symptoms of Muir-Torre syndrome? Sebaceous adenoma is the most characteristic finding in people with Muir-Torre syndrome (MTS). Other types of skin tumors in affected people include sebaceous epitheliomas, sebaceous carcinomas (which commonly occur on the eyelids) and keratoacanthomas. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Muir-Torre syndrome ? ### Response: What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. " "Below is an instruction from Human. Write a response. ### Instruction: Is Muir-Torre syndrome inherited ? ### Response: How is Muir-Torre syndrome inherited? Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Moebius syndrome ? ### Response: Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Moebius syndrome ? ### Response: What are the signs and symptoms of Moebius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Moebius syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Moebius syndrome inherited ? ### Response: Is Moebius syndrome inherited? Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there has not been a consistent pattern of inheritance among all affected families. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile retinoschisis ? ### Response: Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile retinoschisis ? ### Response: What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile retinoschisis ? ### Response: What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together). " "Below is an instruction from Human. Write a response. ### Instruction: Is Juvenile retinoschisis inherited ? ### Response: How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile retinoschisis ? ### Response: What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lipoid proteinosis of Urbach and Wiethe ? ### Response: Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ? ### Response: What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Axenfeld-Rieger syndrome type 1 ? ### Response: What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Axenfeld-Rieger syndrome type 1 ? ### Response: Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Axenfeld-Rieger syndrome type 1 ? ### Response: Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hashimoto's encephalitis ? ### Response: Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune or inflammatory abnormality. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hashimoto's encephalitis ? ### Response: What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hashimoto's encephalitis ? ### Response: What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hashimoto's encephalitis inherited ? ### Response: Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hashimoto's encephalitis ? ### Response: How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Infantile Parkinsonism-dystonia ? ### Response: What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 40 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Iminoglycinuria ? ### Response: What are the signs and symptoms of Iminoglycinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Iminoglycinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Zori Stalker Williams syndrome ? ### Response: What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Maternally inherited diabetes and deafness ? ### Response: Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maternally inherited diabetes and deafness ? ### Response: What are the signs and symptoms of Maternally inherited diabetes and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternally inherited diabetes and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Maternally inherited diabetes and deafness inherited ? ### Response: How do people inherit MIDD? MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Embryonal carcinoma ? ### Response: Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mnire's disease ? ### Response: Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mnire's disease ? ### Response: What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mnire's disease ? ### Response: What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mnire's disease ? ### Response: How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mnire's disease ? ### Response: How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys retention of fluids through dietary changes (such as a low-salt or salt-free diet and no caffeine or alcohol). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bone dysplasia lethal Holmgren type ? ### Response: What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trichotillomania ? ### Response: Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichotillomania ? ### Response: What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trichotillomania ? ### Response: How might trichotillomania be treated? Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Costello syndrome ? ### Response: Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Costello syndrome ? ### Response: What are the signs and symptoms of Costello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Costello syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Larynx, congenital partial atresia of ? ### Response: What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acromegaloid facial appearance syndrome ? ### Response: What are the signs and symptoms of Acromegaloid facial appearance syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid facial appearance syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dopa-responsive dystonia ? ### Response: Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dopa-responsive dystonia ? ### Response: What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. " "Below is an instruction from Human. Write a response. ### Instruction: Is Dopa-responsive dystonia inherited ? ### Response: How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Dopa-responsive dystonia ? ### Response: How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hypertrophic cardiomyopathy ? ### Response: Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hypertrophic cardiomyopathy ? ### Response: What are the signs and symptoms of Familial hypertrophic cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypertrophic cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Familial hypertrophic cardiomyopathy ? ### Response: What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. " "Below is an instruction from Human. Write a response. ### Instruction: Is Familial hypertrophic cardiomyopathy inherited ? ### Response: How is familial hypertrophic cardiomyopathy inherited? Familial hypertrophic cardiomyopathy (HCM) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Familial hypertrophic cardiomyopathy ? ### Response: Is genetic testing available for familial hypertrophic cardiomyopathy? Yes. Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several known genes, and possibly other genes that have not yet been identified. Genetic testing for HCM is most informative as a ""family test"" rather than a test of one person. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Narcolepsy ? ### Response: Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called ""sleep attacks"") that can occur at any time, and may last from seconds or minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Narcolepsy ? ### Response: What are the signs and symptoms of Narcolepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Narcolepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Narcolepsy ? ### Response: How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Narcolepsy ? ### Response: How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Megalocornea-intellectual disability syndrome ? ### Response: What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hooft disease ? ### Response: What are the signs and symptoms of Hooft disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hooft disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Deafness and myopia syndrome ? ### Response: Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness and myopia syndrome ? ### Response: What are the signs and symptoms of Deafness and myopia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness and myopia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Milroy disease ? ### Response: What are the signs and symptoms of Milroy disease? The most common symptom of Milroy disease is build-up of fluids (lymphedema) in the lower limbs, which is usually present from birth or before birth. However, the degree and distribution of swelling varies among affected people. " "Below is an instruction from Human. Write a response. ### Instruction: Is Milroy disease inherited ? ### Response: How is Milroy disease inherited? Milroy disease is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Milroy disease ? ### Response: Is genetic testing available for Milroy disease? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for Milroy disease. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Milroy disease ? ### Response: How might Milroy disease be treated? There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Orofaciodigital syndrome 2 ? ### Response: Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 2 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips) Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes) Finger and toe findings Clinobrachydactyly (narrow, short fingers and toes) Syndactyly (fused fingers and toes) Polydactyly (presence of more than five fingers on hands and/or five toes on feet) Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings Conductive hearing loss Central nervous system impairments (porencephaly and hydrocephaly) Heart defects (atrioventricular canal [endocardial cushion] defects) The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 2. " "Below is an instruction from Human. Write a response. ### Instruction: Is Orofaciodigital syndrome 2 inherited ? ### Response: How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Orofaciodigital syndrome 2 inherited ? ### Response: How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acroosteolysis dominant type ? ### Response: What are the signs and symptoms of Acroosteolysis dominant type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acroosteolysis dominant type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, autosomal recessive 51 ? ### Response: What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial multiple trichodiscomas ? ### Response: What are the signs and symptoms of Familial multiple trichodiscomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial multiple trichodiscomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Potato nose ? ### Response: What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Agenesis of the dorsal pancreas ? ### Response: Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Agenesis of the dorsal pancreas ? ### Response: What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Agenesis of the dorsal pancreas ? ### Response: What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Agenesis of the dorsal pancreas ? ### Response: How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fountain syndrome ? ### Response: What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pediatric ulcerative colitis ? ### Response: What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brody myopathy ? ### Response: Brody disease is a type of myopahty or ""disease of muscle."" Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brody myopathy ? ### Response: What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Brody myopathy ? ### Response: What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Brody myopathy ? ### Response: How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Brody myopathy ? ### Response: How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Occipital horn syndrome ? ### Response: Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Occipital horn syndrome ? ### Response: What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Occipital horn syndrome ? ### Response: What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth disease type 1A ? ### Response: Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 1A ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1A? CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few years. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CADASIL ? ### Response: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CADASIL ? ### Response: What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. " "Below is an instruction from Human. Write a response. ### Instruction: What causes CADASIL ? ### Response: What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. " "Below is an instruction from Human. Write a response. ### Instruction: Is CADASIL inherited ? ### Response: How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for CADASIL ? ### Response: How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wiedemann-Steiner syndrome ? ### Response: Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wiedemann-Steiner syndrome ? ### Response: What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bell's palsy ? ### Response: Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bell's palsy ? ### Response: Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bell's palsy ? ### Response: Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bell's palsy ? ### Response: Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Popliteal pterygium syndrome lethal type ? ### Response: What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bilateral frontal polymicrogyria ? ### Response: Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of EEC syndrome ? ### Response: What are the signs and symptoms of EEC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for EEC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes EEC syndrome ? ### Response: What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. " "Below is an instruction from Human. Write a response. ### Instruction: Is EEC syndrome inherited ? ### Response: How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose EEC syndrome ? ### Response: Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Donnai-Barrow syndrome ? ### Response: Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Donnai-Barrow syndrome ? ### Response: What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ? ### Response: What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anauxetic dysplasia ? ### Response: What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hyperthyroidism due to mutations in TSH receptor ? ### Response: What are the signs and symptoms of Familial hyperthyroidism due to mutations in TSH receptor? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperthyroidism due to mutations in TSH receptor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ollier disease ? ### Response: Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ollier disease ? ### Response: What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ollier disease ? ### Response: What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ollier disease ? ### Response: What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe combined immunodeficiency, atypical ? ### Response: What are the signs and symptoms of Severe combined immunodeficiency, atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe combined immunodeficiency, atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ADULT syndrome ? ### Response: What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proteus syndrome ? ### Response: Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proteus syndrome ? ### Response: What are the signs and symptoms of Proteus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proteus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Proteus syndrome ? ### Response: What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepimetaphyseal dysplasia joint laxity ? ### Response: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Say-Field-Coldwell syndrome ? ### Response: What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Slipped capital femoral epiphysis ? ### Response: What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Rabson-Mendenhall syndrome ? ### Response: Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rabson-Mendenhall syndrome ? ### Response: What are the signs and symptoms of Rabson-Mendenhall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rabson-Mendenhall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Branchiooculofacial syndrome ? ### Response: Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: Is Branchiooculofacial syndrome inherited ? ### Response: How is branchiooculofacial syndrome (BOFS) inherited? Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Branchiooculofacial syndrome ? ### Response: How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyperparathyroidism-jaw tumor syndrome ? ### Response: Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ? ### Response: What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neonatal progeroid syndrome ? ### Response: Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neonatal progeroid syndrome ? ### Response: What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: Is Neonatal progeroid syndrome inherited ? ### Response: Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Neonatal progeroid syndrome ? ### Response: How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neonatal progeroid syndrome ? ### Response: How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipase deficiency combined ? ### Response: What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bifid nose with or without anorectal and renal anomalies ? ### Response: What are the signs and symptoms of Bifid nose with or without anorectal and renal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rutherfurd syndrome ? ### Response: What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gingival fibromatosis, 1 ? ### Response: What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 15 ? ### Response: What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyssegmental dysplasia Silverman-Handmaker type ? ### Response: What are the signs and symptoms of Dyssegmental dysplasia Silverman-Handmaker type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssegmental dysplasia Silverman-Handmaker type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataract, autosomal recessive congenital 2 ? ### Response: What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pheochromocytoma, childhood ? ### Response: What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thanatophoric dysplasia ? ### Response: Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thanatophoric dysplasia ? ### Response: What are the signs and symptoms of Thanatophoric dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thanatophoric dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Thanatophoric dysplasia ? ### Response: What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe problems with bone growth that are seen in thanatophoric dysplasia. " "Below is an instruction from Human. Write a response. ### Instruction: Is Thanatophoric dysplasia inherited ? ### Response: Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sillence syndrome ? ### Response: What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mac Dermot Winter syndrome ? ### Response: What are the signs and symptoms of Mac Dermot Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mac Dermot Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Syringoma ? ### Response: Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syringoma ? ### Response: What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Syringoma ? ### Response: How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Antisynthetase syndrome ? ### Response: Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Antisynthetase syndrome ? ### Response: What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Antisynthetase syndrome ? ### Response: How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Antisynthetase syndrome ? ### Response: What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ? ### Response: What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic myeloid leukemia ? ### Response: What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Henoch-Schonlein purpura ? ### Response: Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Henoch-Schonlein purpura ? ### Response: What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Henoch-Schonlein purpura inherited ? ### Response: Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Henoch-Schonlein purpura ? ### Response: What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple mitochondrial dysfunctions syndrome ? ### Response: Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple mitochondrial dysfunctions syndrome ? ### Response: What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Larsen-like syndrome ? ### Response: What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonic stenosis ? ### Response: What are the signs and symptoms of Pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian carcinosarcoma ? ### Response: Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells. Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary. The average age of women at the time of diagnosis is 60 to 70 years. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ovarian carcinosarcoma ? ### Response: Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation. However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ? ### Response: What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ADCY5-related dyskinesia ? ### Response: ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ADCY5-related dyskinesia ? ### Response: What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Michelin tire baby syndrome ? ### Response: Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital). The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Michelin tire baby syndrome ? ### Response: What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 21-hydroxylase deficiency ? ### Response: What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. " "Below is an instruction from Human. Write a response. ### Instruction: What causes 21-hydroxylase deficiency ? ### Response: What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2). " "Below is an instruction from Human. Write a response. ### Instruction: Is 21-hydroxylase deficiency inherited ? ### Response: How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose 21-hydroxylase deficiency ? ### Response: Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 21-hydroxylase deficiency ? ### Response: What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hypocalciuric hypercalcemia type 3 ? ### Response: What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked thrombocytopenia ? ### Response: What are the signs and symptoms of X-linked thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pendred syndrome ? ### Response: Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pendred syndrome ? ### Response: What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pendred syndrome inherited ? ### Response: How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Quebec platelet disorder ? ### Response: What are the signs and symptoms of Quebec platelet disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Craniopharyngioma ? ### Response: A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniopharyngioma ? ### Response: What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Craniopharyngioma ? ### Response: What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Craniopharyngioma ? ### Response: How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhizomelic syndrome ? ### Response: What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 21 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 19p13.12 microdeletion syndrome ? ### Response: What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly Mononen type ? ### Response: What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrocapitofemoral dysplasia ? ### Response: What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 12q deletion ? ### Response: Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple epiphyseal dysplasia 1 ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness nephritis anorectal malformation ? ### Response: What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neutrophil-specific granule deficiency ? ### Response: What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cohen syndrome ? ### Response: Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cohen syndrome ? ### Response: What are the signs and symptoms of Cohen syndrome? The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashes, wave-shaped palpebral fissures, broad nasal tip, smooth or shortened philtrum, and hypotonic appearance. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cohen syndrome ? ### Response: How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cohen syndrome ? ### Response: How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pelizaeus-Merzbacher-like disease ? ### Response: What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinal cone dystrophy 3A ? ### Response: What are the signs and symptoms of Retinal cone dystrophy 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nephrocalcinosis ? ### Response: What causes nephrocalcinosis? Nephrocalcinosis may be caused by a variety of things, including underlying disorders or conditions, medications or supplements, and infections. Causes may include: Primary hyperparathyroidism is the single most common cause of nephrocalcinosis in adults. " "Below is an instruction from Human. Write a response. ### Instruction: Is Nephrocalcinosis inherited ? ### Response: Is nephrocalcinosis inherited? Nephrocalcinosis may be caused by a large variety of things, including underlying disorders, certain medications and supplements, and infections. Nephrocalcinosis itself is not inherited. However, the underlying condition that is causing nephrocalcinosis in an individual may be inherited. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nephrocalcinosis ? ### Response: How might nephrocalcinosis be treated? Treatment of nephrocalcinosis includes treating the underlying condition causing nephrocalcinosis, if it is known. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatoblastoma ? ### Response: Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hepatoblastoma ? ### Response: What are the signs and symptoms of Hepatoblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatoblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Partial agenesis of corpus callosum ? ### Response: What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Klinefelter syndrome ? ### Response: What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Klinefelter syndrome ? ### Response: What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: Is Klinefelter syndrome inherited ? ### Response: Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Klinefelter syndrome ? ### Response: How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klinefelter syndrome ? ### Response: How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: How is periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) diagnosed? There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asperger syndrome ? ### Response: Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. " "Below is an instruction from Human. Write a response. ### Instruction: Is Asperger syndrome inherited ? ### Response: Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes ""run in families,"" but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beta ketothiolase deficiency ? ### Response: Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beta ketothiolase deficiency ? ### Response: What are the signs and symptoms of Beta ketothiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta ketothiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maternal hyperphenylalaninemia ? ### Response: What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Stargardt disease ? ### Response: Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stargardt disease ? ### Response: What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Stargardt disease inherited ? ### Response: How is Stargardt disease inherited? Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Stargardt disease ? ### Response: Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome ? ### Response: What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Noonan syndrome inherited ? ### Response: How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Koolen de Vries syndrome ? ### Response: Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Koolen de Vries syndrome ? ### Response: What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Koolen de Vries syndrome ? ### Response: How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sener syndrome ? ### Response: What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuroferritinopathy ? ### Response: Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuroferritinopathy ? ### Response: What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia facial cutaneous lesions ? ### Response: What are the signs and symptoms of Spastic paraplegia facial cutaneous lesions? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia facial cutaneous lesions. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mehes syndrome ? ### Response: What are the signs and symptoms of Mehes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mehes syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of RHYNS syndrome ? ### Response: What are the signs and symptoms of RHYNS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for RHYNS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pituitary hormone deficiency, combined 3 ? ### Response: What are the signs and symptoms of Pituitary hormone deficiency, combined 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Battaglia-Neri syndrome ? ### Response: What are the signs and symptoms of Battaglia-Neri syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Battaglia-Neri syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hard skin syndrome Parana type ? ### Response: What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spranger Schinzel Myers syndrome ? ### Response: What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Primary Familial Brain Calcification ? ### Response: Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Primary Familial Brain Calcification ? ### Response: What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary Familial Brain Calcification ? ### Response: What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Primary Familial Brain Calcification ? ### Response: How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Athabaskan brainstem dysgenesis ? ### Response: What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of GOMBO syndrome ? ### Response: What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Urea cycle disorders ? ### Response: A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tetralogy of fallot and glaucoma ? ### Response: What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thyrotoxic periodic paralysis ? ### Response: What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) SAPHO syndrome ? ### Response: SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SAPHO syndrome ? ### Response: What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for SAPHO syndrome ? ### Response: How might SAPHO syndrome be treated? There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Necrotizing fasciitis ? ### Response: Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the infection site. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Necrotizing fasciitis ? ### Response: What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Necrotizing fasciitis ? ### Response: What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Necrotizing fasciitis ? ### Response: How might necrotizing fasciitis be treated? Accurate and prompt diagnosis, treatment with intravenous (IV) antibiotics, and surgery to remove dead tissue are all important for treating necrotizing fasciitis. Since the blood supply to the infected tissue is impaired, antibiotics cannot penetrate into the infected tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Eyebrows duplication of, with stretchable skin and syndactyly ? ### Response: What are the signs and symptoms of Eyebrows duplication of, with stretchable skin and syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Eyebrows duplication of, with stretchable skin and syndactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? ### Response: What are the signs and symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, spondylocheirodysplastic type . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spastic diplegia cerebral palsy ? ### Response: Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic diplegia cerebral palsy ? ### Response: What are the signs and symptoms of spastic diplegia cerebral palsy? The symptoms and severity of spastic diplegia cerebral palsy vary significantly from person to person. It is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Spastic diplegia cerebral palsy ? ### Response: What causes spastic diplegia cerebral palsy? Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Spastic diplegia cerebral palsy ? ### Response: How is spastic diplegia cerebral palsy diagnosed? A diagnosis of spastic diplegia cerebral palsy is based on the presence of characteristic signs and symptoms. However, the following tests may be recommended to rule out other conditions that cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spastic diplegia cerebral palsy ? ### Response: How might spastic diplegia cerebral palsy be treated? Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant optic atrophy plus syndrome ? ### Response: What are the signs and symptoms of Autosomal dominant optic atrophy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Raine syndrome ? ### Response: What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Crigler Najjar syndrome, type 2 ? ### Response: Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crigler Najjar syndrome, type 2 ? ### Response: What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Crigler Najjar syndrome, type 2 ? ### Response: How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aniridia ? ### Response: What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aniridia ? ### Response: How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kosztolanyi syndrome ? ### Response: What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Troyer syndrome ? ### Response: Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Troyer syndrome ? ### Response: What are the signs and symptoms of Troyer syndrome? The signs and symptoms of Troyer syndrome can vary, and some people are more severely affected than others. Symptoms typically begin in early childhood. Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Troyer syndrome ? ### Response: What causes Troyer syndrome? Troyer syndrome is caused by mutations in the SPG20 gene. This gene gives the body instructions to make a protein called spartin, which is present in many body tissues, including those of the nervous system. However, the function of this protein is not fully understood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Troyer syndrome inherited ? ### Response: How is Troyer syndrome inherited? Troyer syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Troyer syndrome ? ### Response: How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is used either orally or by intrathecal pump. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lyme disease ? ### Response: Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lyme disease ? ### Response: What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ? ### Response: What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metaphyseal acroscyphodysplasia ? ### Response: What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple self healing squamous epithelioma ? ### Response: What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Miller syndrome ? ### Response: Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Miller syndrome ? ### Response: What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cryptogenic organizing pneumonia ? ### Response: Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cryptogenic organizing pneumonia ? ### Response: What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare) " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cryptogenic organizing pneumonia ? ### Response: What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cryptogenic organizing pneumonia inherited ? ### Response: Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cryptogenic organizing pneumonia ? ### Response: How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cryptogenic organizing pneumonia ? ### Response: How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Nonalcoholic steatohepatitis ? ### Response: Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a liver problem. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Nonalcoholic steatohepatitis ? ### Response: What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nonalcoholic steatohepatitis ? ### Response: How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary medications These are standard recommendations, but they can make a difference. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypertryptophanemia ? ### Response: Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertryptophanemia ? ### Response: What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myhre syndrome ? ### Response: Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Myhre syndrome ? ### Response: What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Myhre syndrome inherited ? ### Response: How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myhre syndrome ? ### Response: How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of McCune Albright syndrome ? ### Response: What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue. " "Below is an instruction from Human. Write a response. ### Instruction: What causes McCune Albright syndrome ? ### Response: What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. " "Below is an instruction from Human. Write a response. ### Instruction: Is McCune Albright syndrome inherited ? ### Response: Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for McCune Albright syndrome ? ### Response: How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Woolly hair hypotrichosis everted lower lip and outstanding ears ? ### Response: What are the signs and symptoms of Woolly hair hypotrichosis everted lower lip and outstanding ears? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair hypotrichosis everted lower lip and outstanding ears. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dengue fever ? ### Response: What are the signs and symptoms of Dengue fever? The Human Phenotype Ontology provides the following list of signs and symptoms for Dengue fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adrenocortical carcinoma ? ### Response: What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypertrichosis congenital generalized X-linked ? ### Response: What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porphyria cutanea tarda ? ### Response: Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience ""photosensitivity,"" which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porphyria cutanea tarda ? ### Response: What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ankyloblepharon filiforme imperforate anus ? ### Response: What are the signs and symptoms of Ankyloblepharon filiforme imperforate anus? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankyloblepharon filiforme imperforate anus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple epiphyseal dysplasia 3 ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cervical hypertrichosis peripheral neuropathy ? ### Response: What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 17q deletion ? ### Response: What are the signs and symptoms of Chromosome 17q deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudohypoaldosteronism type 2 ? ### Response: Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudohypoaldosteronism type 2 ? ### Response: What are the signs and symptoms of Pseudohypoaldosteronism type 2? The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults. In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pseudohypoaldosteronism type 2 ? ### Response: What causes pseudohypoaldosteronism type 2? Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pseudohypoaldosteronism type 2 ? ### Response: How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pseudohypoaldosteronism type 2 ? ### Response: How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 5B ? ### Response: What are the signs and symptoms of Spastic paraplegia 5B? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 5B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fitzsimmons-Guilbert syndrome ? ### Response: What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Bietti crystalline corneoretinal dystrophy ? ### Response: Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bietti crystalline corneoretinal dystrophy ? ### Response: What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteopetrosis autosomal recessive 7 ? ### Response: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteopetrosis autosomal recessive 7 ? ### Response: What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medullary cystic kidney disease 1 ? ### Response: Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Medullary cystic kidney disease 1 ? ### Response: What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cor triatriatum ? ### Response: Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ACTH-independent macronodular adrenal hyperplasia ? ### Response: What are the signs and symptoms of ACTH-independent macronodular adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for ACTH-independent macronodular adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dermatoosteolysis Kirghizian type ? ### Response: What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Larsen syndrome ? ### Response: Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: Is Larsen syndrome inherited ? ### Response: How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cardiocranial syndrome ? ### Response: What are the signs and symptoms of Cardiocranial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiocranial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hawkinsinuria ? ### Response: What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eisenmenger syndrome ? ### Response: Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a ""hole in the heart"" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Eisenmenger syndrome ? ### Response: What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Eisenmenger syndrome ? ### Response: What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Eisenmenger syndrome ? ### Response: How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteogenesis imperfecta type VII ? ### Response: What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Preaxial polydactyly type 4 ? ### Response: What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 19q13.11 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 19q13.11 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 19q13.11 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Yellow nail syndrome ? ### Response: Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Yellow nail syndrome ? ### Response: What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Yellow nail syndrome ? ### Response: Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Yellow nail syndrome ? ### Response: How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Early infantile epileptic encephalopathy 25 ? ### Response: What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ? ### Response: Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis 7 ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Late-Onset Familial Alzheimer Disease ? ### Response: Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glycogen storage disease type 1B ? ### Response: Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 1B ? ### Response: What are the signs and symptoms of Glycogen storage disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Weill-Marchesani syndrome ? ### Response: Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Weill-Marchesani syndrome ? ### Response: What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Weill-Marchesani syndrome ? ### Response: What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Weill-Marchesani syndrome ? ### Response: How is Weill-Marchesani syndrome diagnosed? The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Weill-Marchesani syndrome ? ### Response: How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jejunal atresia ? ### Response: Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Jejunal atresia ? ### Response: What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). " "Below is an instruction from Human. Write a response. ### Instruction: Is Jejunal atresia inherited ? ### Response: Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Jejunal atresia ? ### Response: How is jejunal atresia diagnosed? In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional testing such as X-rays with or without contrast can then be ordered to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Jejunal atresia ? ### Response: How is jejunal atresia diagnosed? In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional testing such as X-rays with or without contrast can then be ordered to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parkinson disease ? ### Response: Parkinson disease belongs to a group of conditions called movement disorders. The four main symptoms are tremor, or trembling in hands, arms, legs, jaw, or head; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parkinson disease ? ### Response: What are the signs and symptoms of Parkinson disease? A number of disorders can cause symptoms similar to those of Parkinson disease. People with symptoms that resemble Parkinson disease but that result from other causes are sometimes said to have parkinsonism. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Parkinson disease ? ### Response: What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. " "Below is an instruction from Human. Write a response. ### Instruction: Is Parkinson disease inherited ? ### Response: Is Parkinson disease inherited? Most cases of Parkinson disease are classified as sporadic and occur in people with no apparent history of the disorder in their family. Although the cause of these cases remains unclear, sporadic cases probably result from a complex interaction of environmental and genetic factors. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parkinson disease ? ### Response: How is Parkinson disease diagnosed? There are currently no blood or laboratory tests that have been proven to help diagnose sporadic cases of Parkinson disease. The diagnosis is generally made after careful evaluation of medical history, current symptoms, and exclusion of other conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Limb-girdle muscular dystrophy, type 2C ? ### Response: What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle mu " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 11 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ? ### Response: What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Joubert syndrome ? ### Response: Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Joubert syndrome ? ### Response: What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Joubert syndrome ? ### Response: What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. " "Below is an instruction from Human. Write a response. ### Instruction: Is Joubert syndrome inherited ? ### Response: How is Joubert syndrome inherited? Joubert syndrome is predominantly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glutamate formiminotransferase deficiency ? ### Response: Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glutamate formiminotransferase deficiency ? ### Response: What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ? ### Response: What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) VIPoma ? ### Response: VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and low blood potassium (hypokalemia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for VIPoma ? ### Response: How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Talipes equinovarus ? ### Response: Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Talipes equinovarus ? ### Response: What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? ### Response: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? ### Response: What are the signs and symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes? The signs and symptoms of MELAS often appear in childhood following a period of normal development. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes inherited ? ### Response: How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes in mtDNA. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? ### Response: What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dens in dente and palatal invaginations ? ### Response: What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bardet-Biedl syndrome 5 ? ### Response: What are the signs and symptoms of Bardet-Biedl syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chiari malformation type 2 ? ### Response: Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chiari malformation type 2 ? ### Response: What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Chiari malformation type 2 inherited ? ### Response: Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary elliptocytosis ? ### Response: Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CODAS syndrome ? ### Response: What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lujan syndrome ? ### Response: Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lujan syndrome ? ### Response: What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Psoriatic juvenile idiopathic arthritis ? ### Response: Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MYH-associated polyposis ? ### Response: MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MYH-associated polyposis ? ### Response: What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes MYH-associated polyposis ? ### Response: What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 4p deletion ? ### Response: Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lactate dehydrogenase deficiency ? ### Response: Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ? ### Response: What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Primary melanoma of the central nervous system ? ### Response: What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis, acquired ? ### Response: What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Celiac artery compression syndrome ? ### Response: Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Celiac artery compression syndrome ? ### Response: What are the signs and symptoms of celiac artery compression syndrome? Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Celiac artery compression syndrome ? ### Response: What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm), other factors have been proposed. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Celiac artery compression syndrome ? ### Response: How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Celiac artery compression syndrome ? ### Response: How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial dermographism ? ### Response: Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial dermographism ? ### Response: What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachycephalofrontonasal dysplasia ? ### Response: What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia Sedaghatian type ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia Sedaghatian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Sedaghatian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? ### Response: What are the signs and symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia? The diagnostic findings of HEM (hydrops fetalis, severe micromelia, and ectopic calcification) have been present in all cases reported in the medical literature thus far. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? ### Response: How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intellectual disability-developmental delay-contractures syndrome ? ### Response: Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ? ### Response: What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Intellectual disability-developmental delay-contractures syndrome inherited ? ### Response: How is intellectual disability-developmental delay-contractures syndrome inherited? Intellectual disability-developmental delay-contractures syndrome syndrome is inherited in an X-linked recessive manner and is caused by mutations in the ZC4H2 gene. A condition is considered X-linked if the gene with the mutation that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alveolar capillary dysplasia ? ### Response: What are the signs and symptoms of Alveolar capillary dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alveolar capillary dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pityriasis lichenoides chronica ? ### Response: Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pityriasis lichenoides chronica ? ### Response: What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pityriasis lichenoides chronica ? ### Response: How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pityriasis lichenoides chronica ? ### Response: How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Patulous Eustachian Tube ? ### Response: Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Patulous Eustachian Tube ? ### Response: How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tylosis with esophageal cancer ? ### Response: Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tylosis with esophageal cancer ? ### Response: What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tylosis with esophageal cancer ? ### Response: What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. " "Below is an instruction from Human. Write a response. ### Instruction: Is Tylosis with esophageal cancer inherited ? ### Response: How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tylosis with esophageal cancer ? ### Response: How might Tylosis with esophageal cancer be treated? Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Light chain deposition disease ? ### Response: Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposited in many different tissues and organs of the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Light chain deposition disease inherited ? ### Response: Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined significance at the following links to the MayoClinic. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bjornstad syndrome ? ### Response: What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepimetaphyseal dysplasia X-linked ? ### Response: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Warfarin sensitivity ? ### Response: Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a ""blood-thinning"" medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to experience an overdose or other serious side effects from the medication. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Warfarin sensitivity ? ### Response: What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Graham Boyle Troxell syndrome ? ### Response: What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrocalcinosis 1 ? ### Response: What are the signs and symptoms of Chondrocalcinosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paget disease of bone, familial ? ### Response: What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kallmann syndrome ? ### Response: Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kallmann syndrome ? ### Response: What are the signs and symptoms of Kallmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Kallmann syndrome inherited ? ### Response: How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leber hereditary optic neuropathy ? ### Response: Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leber hereditary optic neuropathy ? ### Response: What are the signs and symptoms of Leber hereditary optic neuropathy? Blurring and clouding of vision are usually the first symptoms of this disorder. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Leber hereditary optic neuropathy ? ### Response: What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. " "Below is an instruction from Human. Write a response. ### Instruction: Is Leber hereditary optic neuropathy inherited ? ### Response: How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2J ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Dravet syndrome ? ### Response: Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dravet syndrome ? ### Response: What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Charcot-Marie-Tooth disease type 2B ? ### Response: Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2B ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Generalized pustular psoriasis ? ### Response: Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Generalized pustular psoriasis ? ### Response: What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 23 ? ### Response: What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 23. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Salivary gland cancer, adult ? ### Response: Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 2 ? ### Response: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paragangliomas 4 ? ### Response: What are the signs and symptoms of Paragangliomas 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolff-Parkinson-White syndrome ? ### Response: Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wolff-Parkinson-White syndrome ? ### Response: What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Wolff-Parkinson-White syndrome ? ### Response: What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Wolff-Parkinson-White syndrome ? ### Response: What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Landau-Kleffner syndrome ? ### Response: Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Landau-Kleffner syndrome ? ### Response: What are the signs and symptoms of Landau-Kleffner syndrome? Landau-Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) in previously normal children along with an abnormal electro-encephalogram (EEG). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Landau-Kleffner syndrome ? ### Response: How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ? ### Response: What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ICF syndrome ? ### Response: What are the signs and symptoms of ICF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ICF syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypolipoproteinemia ? ### Response: Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypolipoproteinemia ? ### Response: Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypolipoproteinemia ? ### Response: What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Notalgia paresthetica ? ### Response: Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital adrenal hyperplasia ? ### Response: Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital adrenal hyperplasia inherited ? ### Response: How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital adrenal hyperplasia ? ### Response: Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital adrenal hyperplasia ? ### Response: How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan ? ### Response: What are the signs and symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia epilepsy oligophrenia syndrome of Moynahan. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Griscelli syndrome type 3 ? ### Response: What are the signs and symptoms of Griscelli syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ? ### Response: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ? ### Response: What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Medium-chain acyl-coenzyme A dehydrogenase deficiency ? ### Response: What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. " "Below is an instruction from Human. Write a response. ### Instruction: Is Medium-chain acyl-coenzyme A dehydrogenase deficiency inherited ? ### Response: How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ? ### Response: How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarnitine profile and an evaluation of organic acids in the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Non-involuting congenital hemangioma ? ### Response: Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Non-involuting congenital hemangioma ? ### Response: How is non-involuting congenital hemangioma diagnosed? Non-involuting congenital hemangioma (NICH) is diagnosed by taking a biopsy of the skin mark and examining the tissue under a microscope. NICH looks different under the microscope than most infantile hemangiomas because the blood vessels are arranged more irregularly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Non-involuting congenital hemangioma ? ### Response: How might non-involuting congenital hemangioma treated? Because non-involuting congenital hemangioma (NICH) is quite rare, there are no established guidelines for the treatment of this condition. However, the authors of one article on NICH suggest that there is no risk for excessive bleeding during the removal of an NICH and it is unlikely to regrow after surgery. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proteus-like syndrome ? ### Response: Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial renal cell carcinoma ? ### Response: What are the signs and symptoms of Familial renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of PAGOD syndrome ? ### Response: What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of McDonough syndrome ? ### Response: What are the signs and symptoms of McDonough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McDonough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple endocrine neoplasia type 2A ? ### Response: Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple endocrine neoplasia type 2A ? ### Response: What are the signs and symptoms of Multiple endocrine neoplasia type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple endocrine neoplasia type 2A ? ### Response: What are the signs and symptoms of Multiple endocrine neoplasia type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 16q deletion ? ### Response: Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Corneal endothelial dystrophy type 2 ? ### Response: What are the signs and symptoms of Corneal endothelial dystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal endothelial dystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Corneal endothelial dystrophy type 2 inherited ? ### Response: How is corneal endothelial dystropy type 2 inherited? Most cases of corneal endothelial dystrophy type 2 are caused by homozygous mutations in the SLC4A11 gene. The condition is transmitted in an autosomal recessive manner. This means that two unaffected parents each carry one copy of a gene mutation for the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Achondroplasia and severe combined immunodeficiency ? ### Response: Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Achondroplasia and severe combined immunodeficiency ? ### Response: What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cri du chat syndrome ? ### Response: Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cri du chat syndrome ? ### Response: What are the signs and symptoms of Cri du chat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cri du chat syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Cri du chat syndrome ? ### Response: What causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. " "Below is an instruction from Human. Write a response. ### Instruction: Is Cri du chat syndrome inherited ? ### Response: Is cri du chat syndrome inherited? Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cri du chat syndrome ? ### Response: How might cri du chat syndrome be treated? While there is no specific treatment available for cri du chat syndrome, early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), behavioral modification (for hyperactivity, short attention span, aggression), and learning (special education). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Complement component 2 deficiency ? ### Response: Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Complement component 2 deficiency ? ### Response: What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Weyers ulnar ray/oligodactyly syndrome ? ### Response: What are the signs and symptoms of Weyers ulnar ray/oligodactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers ulnar ray/oligodactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Citrullinemia type I ? ### Response: Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Citrullinemia type I ? ### Response: What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Citrullinemia type I ? ### Response: What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. " "Below is an instruction from Human. Write a response. ### Instruction: Is Citrullinemia type I inherited ? ### Response: How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hyper-IgD syndrome ? ### Response: Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyper-IgD syndrome ? ### Response: What are the signs and symptoms of Hyper-IgD syndrome? Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyper-IgD syndrome ? ### Response: What are the signs and symptoms of Hyper-IgD syndrome? Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. " "Below is an instruction from Human. Write a response. ### Instruction: Is Hyper-IgD syndrome inherited ? ### Response: Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hyper-IgD syndrome ? ### Response: How might hyper IgD syndrome be treated? There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of WT limb blood syndrome ? ### Response: What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nelson syndrome ? ### Response: What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Conductive deafness with malformed external ear ? ### Response: What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly types B and E combined ? ### Response: What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Choroidal dystrophy central areolar ? ### Response: What are the signs and symptoms of Choroidal dystrophy central areolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroidal dystrophy central areolar. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schimke immunoosseous dysplasia ? ### Response: Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system. Growth failure is often the first sign of this condition. Other features are usually detected in the evaluation for growth failure or in the following years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schimke immunoosseous dysplasia ? ### Response: What are the signs and symptoms of Schimke immunoosseous dysplasia? Schimke immunoosseous dysplasia is characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schimke immunoosseous dysplasia ? ### Response: How is Schimke immunoosseous dysplasia diagnosed? The diagnosis of SIOD is made on clinical findings. The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schimke immunoosseous dysplasia ? ### Response: How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop. Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic paraplegia 16 ? ### Response: What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyruvate carboxylase deficiency ? ### Response: Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyruvate carboxylase deficiency ? ### Response: What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pyruvate carboxylase deficiency inherited ? ### Response: How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Zellweger spectrum ? ### Response: Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ? ### Response: What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenitally corrected transposition of the great arteries ? ### Response: Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenitally corrected transposition of the great arteries ? ### Response: What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute alcohol sensitivity ? ### Response: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acute alcohol sensitivity ? ### Response: What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ? ### Response: What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) De Barsy syndrome ? ### Response: De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of De Barsy syndrome ? ### Response: What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sclerosing mucoepidermoid carcinoma with eosinophilia ? ### Response: Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well. Signs and symptoms include a painless neck mass. Many people with mucoepidermoid carcinomas are women with Hashimoto's thyroiditis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Midphalangeal hair ? ### Response: What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleft palate X-linked ? ### Response: What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucolipidosis III alpha/beta ? ### Response: What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multicentric osteolysis nephropathy ? ### Response: What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A2 ? ### Response: What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jervell Lange-Nielsen syndrome ? ### Response: Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jervell Lange-Nielsen syndrome ? ### Response: What are the signs and symptoms of Jervell Lange-Nielsen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell Lange-Nielsen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Centronuclear myopathy ? ### Response: Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Centronuclear myopathy ? ### Response: What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Banki syndrome ? ### Response: What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb deficiencies distal with micrognathia ? ### Response: What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked lissencephaly with abnormal genitalia ? ### Response: What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marfan syndrome ? ### Response: Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marfan syndrome ? ### Response: What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. " "Below is an instruction from Human. Write a response. ### Instruction: Is Marfan syndrome inherited ? ### Response: How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paris-Trousseau thrombocytopenia ? ### Response: What are the signs and symptoms of Paris-Trousseau thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ? ### Response: What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MORM syndrome ? ### Response: What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aplasia cutis congenita intestinal lymphangiectasia ? ### Response: What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudodiastrophic dysplasia ? ### Response: What are the signs and symptoms of Pseudodiastrophic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudodiastrophic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reardon Wilson Cavanagh syndrome ? ### Response: What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Patterned dystrophy of retinal pigment epithelium ? ### Response: What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jensen syndrome ? ### Response: What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Postural orthostatic tachycardia syndrome ? ### Response: Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Postural orthostatic tachycardia syndrome ? ### Response: What are the signs and symptoms of postural orthostatic tachycardia syndrome? Postural orthostatic tachycardia syndrome (POTS) is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Postural orthostatic tachycardia syndrome ? ### Response: What causes postural orthostatic tachycardia syndrome? The underlying cause of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. " "Below is an instruction from Human. Write a response. ### Instruction: Is Postural orthostatic tachycardia syndrome inherited ? ### Response: Is postural orthostatic tachycardia syndrome inherited? Most cases of postural orthostatic tachycardia syndrome (POTS) are not thought to be inherited. Although the condition generally occurs sporadically, some people with POTS do report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Postural orthostatic tachycardia syndrome ? ### Response: How is postural orthostatic tachycardia syndrome diagnosed? A diagnosis of postural orthostatic tachycardia syndrome (POTS) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Postural orthostatic tachycardia syndrome ? ### Response: How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2-methyl-3-hydroxybutyric aciduria ? ### Response: 2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 2-methyl-3-hydroxybutyric aciduria ? ### Response: What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Otofaciocervical syndrome ? ### Response: What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syngnathia multiple anomalies ? ### Response: What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fournier gangrene ? ### Response: Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebral gigantism jaw cysts ? ### Response: What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 7p deletion ? ### Response: Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Haim-Munk syndrome ? ### Response: What are the signs and symptoms of Haim-Munk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Haim-Munk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Opsismodysplasia ? ### Response: Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Opsismodysplasia ? ### Response: What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratoconus posticus circumscriptus ? ### Response: What are the signs and symptoms of Keratoconus posticus circumscriptus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus posticus circumscriptus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb-girdle muscular dystrophy ? ### Response: Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. " "Below is an instruction from Human. Write a response. ### Instruction: Is Limb-girdle muscular dystrophy inherited ? ### Response: How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Limb-girdle muscular dystrophy ? ### Response: How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limited cutaneous systemic sclerosis ? ### Response: Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limited cutaneous systemic sclerosis ? ### Response: What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Limited cutaneous systemic sclerosis ? ### Response: How might CREST syndrome be treated? Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken. Treatment generally focuses on relieving signs and symptoms and preventing complications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontometaphyseal dysplasia ? ### Response: What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontometaphyseal dysplasia ? ### Response: What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coccygodynia ? ### Response: What signs and symptoms are associated with coccygodynia? The classic symptom is pain when pressure is applied to the tailbone, such as when sitting on a hard chair. Symptoms usually improve with relief of pressure when standing or walking . Other symptoms " "Below is an instruction from Human. Write a response. ### Instruction: What causes Coccygodynia ? ### Response: What causes coccygodynia? A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surround the trampoline jumping pad, or from falling from a horse or skis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coccygodynia ? ### Response: What treatment is available for coccygodynia? Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Axenfeld-Rieger syndrome type 2 ? ### Response: What are the signs and symptoms of Axenfeld-Rieger syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glomerulonephritis with sparse hair and telangiectases ? ### Response: What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 18 Hydroxylase deficiency ? ### Response: What are the signs and symptoms of 18 Hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 18 Hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile myelomonocytic leukemia ? ### Response: What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Smith McCort dysplasia ? ### Response: What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epilepsy occipital calcifications ? ### Response: What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epidermolysis bullosa simplex, generalized ? ### Response: Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa simplex, generalized ? ### Response: What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Epidermolysis bullosa simplex, generalized ? ### Response: How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short stature syndrome, Brussels type ? ### Response: What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Faciocardiorenal syndrome ? ### Response: What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scalp defects postaxial polydactyly ? ### Response: What are the signs and symptoms of Scalp defects postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp defects postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Axial osteomalacia ? ### Response: What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Satoyoshi syndrome ? ### Response: Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Satoyoshi syndrome ? ### Response: What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Satoyoshi syndrome ? ### Response: What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fowler's syndrome ? ### Response: What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fowler's syndrome ? ### Response: What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fowler's syndrome ? ### Response: How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fowler's syndrome ? ### Response: How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nestor-guillermo progeria syndrome ? ### Response: What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonia congenita autosomal dominant ? ### Response: Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myotonia congenita autosomal dominant ? ### Response: What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pontocerebellar hypoplasia type 1 ? ### Response: Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pontocerebellar hypoplasia type 1 ? ### Response: What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pontocerebellar hypoplasia type 1 ? ### Response: What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pontocerebellar hypoplasia type 1 inherited ? ### Response: How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pontocerebellar hypoplasia type 1 inherited ? ### Response: How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichorhinophalangeal syndrome type 3 ? ### Response: What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syndrome of inappropriate antidiuretic hormone ? ### Response: What are the signs and symptoms of Syndrome of inappropriate antidiuretic hormone? Symptoms of syndrome of inappropriate antidiuretic hormone include water retention and low sodium level. Low sodium levels may cause lethargy and confusion. Severe low levels of sodium in the body may cause muscle twitching, seizures, stupor, coma, and death. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Syndrome of inappropriate antidiuretic hormone ? ### Response: How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intrahepatic cholangiocarcinoma ? ### Response: Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intrahepatic cholangiocarcinoma ? ### Response: How might intrahepatic cholangiocarcinoma be treated? Can it be cured? Surgery to completely remove the bile duct and tumor is the only option that can possibly lead to a cure for patients. The type of operation will depend on the size and location of the cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis 9 ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Williams syndrome ? ### Response: Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Williams syndrome ? ### Response: What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Williams syndrome ? ### Response: What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Williams syndrome ? ### Response: What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple pterygium syndrome Escobar type ? ### Response: Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple pterygium syndrome Escobar type ? ### Response: What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple pterygium syndrome Escobar type ? ### Response: What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multiple pterygium syndrome Escobar type ? ### Response: How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple pterygium syndrome Escobar type ? ### Response: How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Femoral facial syndrome ? ### Response: Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Femoral facial syndrome ? ### Response: What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Femoral facial syndrome inherited ? ### Response: Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mixed connective tissue disease ? ### Response: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mixed connective tissue disease ? ### Response: What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mixed connective tissue disease ? ### Response: What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should ""fight off. " "Below is an instruction from Human. Write a response. ### Instruction: Is Mixed connective tissue disease inherited ? ### Response: Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mixed connective tissue disease ? ### Response: How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mixed connective tissue disease ? ### Response: How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteochondritis dissecans ? ### Response: Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Osteochondritis dissecans ? ### Response: What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteochondritis dissecans ? ### Response: How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteochondritis dissecans ? ### Response: How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudoainhum ? ### Response: What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schindler disease type 1 ? ### Response: Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schindler disease type 1 ? ### Response: What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Schindler disease type 1 ? ### Response: What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). " "Below is an instruction from Human. Write a response. ### Instruction: Is Schindler disease type 1 inherited ? ### Response: How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically so not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyssynergia cerebellaris myoclonica ? ### Response: What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oral submucous fibrosis ? ### Response: What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Biotinidase deficiency ? ### Response: What are the signs and symptoms of Biotinidase deficiency? The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ? ### Response: What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ellis-Van Creveld syndrome ? ### Response: Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ellis-Van Creveld syndrome ? ### Response: What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adenoid cystic carcinoma ? ### Response: Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adenoid cystic carcinoma ? ### Response: What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Adenoid cystic carcinoma inherited ? ### Response: Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ornithine transcarbamylase deficiency ? ### Response: Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ornithine transcarbamylase deficiency ? ### Response: What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ornithine transcarbamylase deficiency ? ### Response: What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ornithine transcarbamylase deficiency inherited ? ### Response: How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SCARF syndrome ? ### Response: What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mycetoma ? ### Response: Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hirschsprung disease polydactyly heart disease ? ### Response: What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thyrotropin deficiency, isolated ? ### Response: What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Van Buchem disease type 2 ? ### Response: What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 7 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dentin dysplasia, type 1 ? ### Response: What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypothalamic dysfunction ? ### Response: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypothalamic dysfunction ? ### Response: What are the signs and symptoms of hypothalamic dysfunction? The signs and symptoms of hypothalamic dysfunction may vary from person to person depending on the specific hormones missing. You can read more by visiting the following link from MedlinePlus. http://www. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Hypothalamic dysfunction ? ### Response: What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypothalamic dysfunction ? ### Response: How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with hormone supplementation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Camurati-Engelmann disease ? ### Response: Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camurati-Engelmann disease ? ### Response: What are the signs and symptoms of Camurati-Engelmann disease? People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected. " "Below is an instruction from Human. Write a response. ### Instruction: Is Camurati-Engelmann disease inherited ? ### Response: How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Camurati-Engelmann disease ? ### Response: How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Camurati-Engelmann disease ? ### Response: How might Camurati-Engelmann disease (CED) be treated? Several medical therapies including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs) have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periventricular heterotopia ? ### Response: Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Periventricular heterotopia ? ### Response: What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Periventricular heterotopia ? ### Response: How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hermansky-Pudlak syndrome ? ### Response: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hermansky-Pudlak syndrome ? ### Response: What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schistosomiasis ? ### Response: Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schistosomiasis ? ### Response: What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schistosomiasis ? ### Response: How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes simplex encephalitis ? ### Response: Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia syndromic 6 ? ### Response: What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spina bifida occulta ? ### Response: Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spina bifida occulta ? ### Response: What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Afibrinogenemia ? ### Response: Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Afibrinogenemia ? ### Response: What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG). " "Below is an instruction from Human. Write a response. ### Instruction: Is Afibrinogenemia inherited ? ### Response: Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpenter syndrome ? ### Response: Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carpenter syndrome ? ### Response: What are the signs and symptoms of Carpenter syndrome? The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family. The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cutaneous mastocytoma ? ### Response: What are the signs and symptoms of Cutaneous mastocytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic ataxia Charlevoix-Saguenay type ? ### Response: What are the signs and symptoms of Spastic ataxia Charlevoix-Saguenay type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic ataxia Charlevoix-Saguenay type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyotrophic lateral sclerosis ? ### Response: Amyotrophic lateral sclerosis (ALS), also referred to as ""Lou Gehrig's disease,"" is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyotrophic lateral sclerosis ? ### Response: What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Amyotrophic lateral sclerosis ? ### Response: What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a family history of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Amyotrophic lateral sclerosis inherited ? ### Response: Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the condition in their family. The remaining 5-10% of cases are familial, and are thought to be caused by mutations in any one of several genes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amyotrophic lateral sclerosis ? ### Response: Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amyotrophic lateral sclerosis ? ### Response: How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis prematurity syndrome ? ### Response: What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trigeminal neuralgia ? ### Response: Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trigeminal neuralgia ? ### Response: What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trigeminal neuralgia ? ### Response: How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia. These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotrigine, and valproic acid. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inclusion body myopathy 2 ? ### Response: Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Inclusion body myopathy 2 ? ### Response: What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Inclusion body myopathy 2 ? ### Response: What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. " "Below is an instruction from Human. Write a response. ### Instruction: Is Inclusion body myopathy 2 inherited ? ### Response: How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Inclusion body myopathy 2 ? ### Response: How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pars planitis ? ### Response: Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pars planitis ? ### Response: What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pars planitis ? ### Response: What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pars planitis ? ### Response: How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or ""inflammatory exudate""). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pars planitis ? ### Response: How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelomeningocele ? ### Response: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myelomeningocele ? ### Response: How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thiamine responsive megaloblastic anemia syndrome ? ### Response: Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ? ### Response: What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Liver failure acute infantile ? ### Response: What are the signs and symptoms of Liver failure acute infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Liver failure acute infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hamanishi Ueba Tsuji syndrome ? ### Response: What are the signs and symptoms of Hamanishi Ueba Tsuji syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hamanishi Ueba Tsuji syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult-onset vitelliform macular dystrophy ? ### Response: Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult-onset vitelliform macular dystrophy ? ### Response: What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Adult-onset vitelliform macular dystrophy ? ### Response: What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial). " "Below is an instruction from Human. Write a response. ### Instruction: Is Adult-onset vitelliform macular dystrophy inherited ? ### Response: How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult-onset vitelliform macular dystrophy ? ### Response: How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial amyloidosis, Finnish type ? ### Response: Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa (""sagging"" skin). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 8q deletion ? ### Response: Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemoglobin E disease ? ### Response: Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemoglobin E disease ? ### Response: What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to be a carrier or have hemoglobin trait. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemoglobin E disease ? ### Response: How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemoglobin E disease ? ### Response: How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile temporal arteritis ? ### Response: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ring chromosome 20 ? ### Response: Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ring chromosome 20 ? ### Response: How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of HELLP syndrome ? ### Response: What are the signs and symptoms of HELLP syndrome? Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands. Vision problems may also be observed. " "Below is an instruction from Human. Write a response. ### Instruction: What causes HELLP syndrome ? ### Response: What causes HELLP syndrome? Doctors are still unclear on what exactly causes HELLP syndrome. Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure), there are still a number of women who get it without previously showing signs of preeclampsia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2D ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2D. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nevi flammei, familial multiple ? ### Response: What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Transient neonatal diabetes mellitus ? ### Response: Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transient neonatal diabetes mellitus ? ### Response: What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schwartz Jampel syndrome type 1 ? ### Response: Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schwartz Jampel syndrome type 1 ? ### Response: What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem ""fixed"" in the same expression with puckered lips due to weakening and stiffening of the facial muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Schwartz Jampel syndrome type 1 ? ### Response: What causes Schwartz Jampel syndrome type 1? Schwartz Jampel syndrome type 1 (SJS1) is caused by mutations in the HSPG2 gene. The HSPG2 gene codes for the protein perlecan, which is found in muscle and cartilage. Although the role of the perlecan protein is not fully understood, it is thought to play an essential role in many biological activities such as cell signaling and cellular structure. " "Below is an instruction from Human. Write a response. ### Instruction: Is Schwartz Jampel syndrome type 1 inherited ? ### Response: How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schwartz Jampel syndrome type 1 ? ### Response: How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pachyonychia congenita ? ### Response: Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pachyonychia congenita ? ### Response: What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pachyonychia congenita inherited ? ### Response: How is pachyonychia congenita inherited? Pachyonychia congenita (PC) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pachyonychia congenita ? ### Response: Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pachyonychia congenita ? ### Response: How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lipedema ? ### Response: Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipedema ? ### Response: What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Lipedema ? ### Response: What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lipedema ? ### Response: How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hairy elbows ? ### Response: What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ? ### Response: What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hereditary neuralgic amyotrophy ? ### Response: Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms. Attacks may be spontaneous or triggered (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary neuralgic amyotrophy ? ### Response: What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paine syndrome ? ### Response: What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Isodicentric chromosome 15 syndrome ? ### Response: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trismus-pseudocamptodactyly syndrome ? ### Response: Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trismus-pseudocamptodactyly syndrome ? ### Response: How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ? ### Response: What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Factor V Leiden thrombophilia ? ### Response: Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Factor V Leiden thrombophilia ? ### Response: What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Factor V Leiden thrombophilia ? ### Response: What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins. " "Below is an instruction from Human. Write a response. ### Instruction: Is Factor V Leiden thrombophilia inherited ? ### Response: How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Factor V Leiden thrombophilia ? ### Response: How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Factor V Leiden thrombophilia ? ### Response: How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleft hand absent tibia ? ### Response: What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Loeys-Dietz syndrome ? ### Response: Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loeys-Dietz syndrome ? ### Response: What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ovarian sex cord tumor with annular tubules ? ### Response: What causes an ovarian sex cord tumor with annular tubules? Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 5 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Michels syndrome ? ### Response: What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 8q12 microduplication syndrome ? ### Response: What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 7q deletion ? ### Response: Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Membranous nephropathy ? ### Response: Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leri pleonosteosis ? ### Response: What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Renal nutcracker syndrome ? ### Response: Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal nutcracker syndrome ? ### Response: What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: Is Renal nutcracker syndrome inherited ? ### Response: Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Renal nutcracker syndrome ? ### Response: How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Renal nutcracker syndrome ? ### Response: How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial erythrocytosis, 1 ? ### Response: What are the signs and symptoms of Familial erythrocytosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythrocytosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary mucoepithelial dysplasia ? ### Response: What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2F ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Charcot-Marie-Tooth disease type 2F ? ### Response: What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Charcot-Marie-Tooth disease type 2F ? ### Response: Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Charcot-Marie-Tooth disease type 2F ? ### Response: How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pachygyria with mental retardation and seizures ? ### Response: What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Infundibulopelvic dysgenesis ? ### Response: What are the signs and symptoms of Infundibulopelvic dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infundibulopelvic dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ossicular Malformations, familial ? ### Response: What are the signs and symptoms of Ossicular Malformations, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Ossicular Malformations, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of STING-associated vasculopathy with onset in infancy ? ### Response: What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Metachromatic leukodystrophy ? ### Response: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metachromatic leukodystrophy ? ### Response: What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Metachromatic leukodystrophy inherited ? ### Response: How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Metachromatic leukodystrophy ? ### Response: Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pili torti ? ### Response: Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili torti ? ### Response: What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pili torti ? ### Response: Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tucker syndrome ? ### Response: What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Martinez Monasterio Pinheiro syndrome ? ### Response: What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ? ### Response: What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Liddle syndrome ? ### Response: Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Liddle syndrome ? ### Response: What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Liddle syndrome ? ### Response: What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). " "Below is an instruction from Human. Write a response. ### Instruction: Is Liddle syndrome inherited ? ### Response: How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Liddle syndrome ? ### Response: How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemangioendothelioma ? ### Response: The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show ""borderline"" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemangioendothelioma ? ### Response: How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fetal and neonatal alloimmune thrombocytopenia ? ### Response: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those present in the mother. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ? ### Response: How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital diaphragmatic hernia ? ### Response: Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. It can range in severity from a thinned area in the diaphragm to its complete absence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital diaphragmatic hernia ? ### Response: What are the signs and symptoms of Congenital diaphragmatic hernia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital diaphragmatic hernia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital diaphragmatic hernia ? ### Response: What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Plasmablastic lymphoma ? ### Response: Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial stomach cancer ? ### Response: Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered ""familial."" Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuronal ceroid lipofuscinosis ? ### Response: Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oral lichen planus ? ### Response: Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oral lichen planus ? ### Response: How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines, diuretics such as chlorothiazide, and many others. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of PHAVER syndrome ? ### Response: What are the signs and symptoms of PHAVER syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PHAVER syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Warm antibody hemolytic anemia ? ### Response: Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatigue, difficulty breathing, jaundice and dark urine. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Warm antibody hemolytic anemia ? ### Response: What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyperinsulinemic hypoglycemia familial 2 ? ### Response: What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Seminoma ? ### Response: What are the signs and symptoms of Seminoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Seminoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile-onset dystonia ? ### Response: Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile-onset dystonia ? ### Response: What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oto-palato-digital syndrome type 1 ? ### Response: What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuropathy, distal hereditary motor, Jerash type ? ### Response: What are the signs and symptoms of Neuropathy, distal hereditary motor, Jerash type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, distal hereditary motor, Jerash type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Macrocephaly-capillary malformation ? ### Response: What are the signs and symptoms of Macrocephaly-capillary malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly-capillary malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Infectious arthritis ? ### Response: Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pilocytic astrocytoma ? ### Response: Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pilocytic astrocytoma ? ### Response: What are the signs and symptoms of pilocytic astrocytoma? People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pilocytic astrocytoma ? ### Response: What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: Is Pilocytic astrocytoma inherited ? ### Response: Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sturge-Weber syndrome ? ### Response: Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sturge-Weber syndrome ? ### Response: What are the signs and symptoms of Sturge-Weber syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sturge-Weber syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Sturge-Weber syndrome ? ### Response: What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple endocrine neoplasia type 1 ? ### Response: Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple endocrine neoplasia type 1 ? ### Response: What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple endocrine neoplasia type 1 ? ### Response: What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is Multiple endocrine neoplasia type 1 inherited ? ### Response: How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multiple endocrine neoplasia type 1 ? ### Response: Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple endocrine neoplasia type 1 ? ### Response: How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beare-Stevenson cutis gyrata syndrome ? ### Response: Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? ### Response: What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinal cone dystrophy 1 ? ### Response: What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Johnston Aarons Schelley syndrome ? ### Response: What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Cerulean cataract ? ### Response: Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerulean cataract ? ### Response: What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cerulean cataract ? ### Response: How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pancreatic cancer, childhood ? ### Response: What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehlers-Danlos syndrome, progeroid type ? ### Response: Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome, progeroid type ? ### Response: What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). " "Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome, progeroid type inherited ? ### Response: How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome, progeroid type ? ### Response: How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gray platelet syndrome ? ### Response: Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gray platelet syndrome ? ### Response: What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gray platelet syndrome ? ### Response: How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Episodic ataxia with nystagmus ? ### Response: What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pterygium of the conjunctiva and cornea ? ### Response: Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pterygium of the conjunctiva and cornea ? ### Response: What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pearson syndrome ? ### Response: Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pearson syndrome ? ### Response: What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Brown-Sequard syndrome ? ### Response: Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nail dysplasia, isolated congenital ? ### Response: What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudoprogeria syndrome ? ### Response: What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Neurofibromatosis inherited ? ### Response: Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHILD syndrome ? ### Response: CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CHILD syndrome ? ### Response: What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? ### Response: What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? ### Response: What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of IBIDS syndrome ? ### Response: What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. " "Below is an instruction from Human. Write a response. ### Instruction: Is IBIDS syndrome inherited ? ### Response: What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for IBIDS syndrome ? ### Response: What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? ### Response: What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Isolated growth hormone deficiency type 3 ? ### Response: What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stomatocytosis I ? ### Response: What are the signs and symptoms of Stomatocytosis I? The Human Phenotype Ontology provides the following list of signs and symptoms for Stomatocytosis I. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscular dystrophy, congenital, merosin-positive ? ### Response: The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular dystrophy, congenital, merosin-positive ? ### Response: What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pseudopseudohypoparathyroidism ? ### Response: Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudopseudohypoparathyroidism ? ### Response: What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Treacher Collins syndrome 3 ? ### Response: What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pityriasis lichenoides et varioliformis acuta ? ### Response: Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pityriasis lichenoides et varioliformis acuta ? ### Response: What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pityriasis lichenoides et varioliformis acuta ? ### Response: What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pityriasis lichenoides et varioliformis acuta ? ### Response: How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pityriasis lichenoides et varioliformis acuta ? ### Response: How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Konigsmark Knox Hussels syndrome ? ### Response: Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Konigsmark Knox Hussels syndrome ? ### Response: What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Konigsmark Knox Hussels syndrome ? ### Response: What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Konigsmark Knox Hussels syndrome ? ### Response: Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. To view the contact information for the clinical laboratories conducting testing click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Follicle-stimulating hormone deficiency, isolated ? ### Response: What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital ectodermal dysplasia with hearing loss ? ### Response: What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Prune belly syndrome ? ### Response: Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear ""prune-like""; (2) undescended testicles in males; and (3) urinary tract problems. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prune belly syndrome ? ### Response: What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Prune belly syndrome ? ### Response: What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung adenocarcinoma ? ### Response: Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lung adenocarcinoma ? ### Response: What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital generalized lipodystrophy type 1 ? ### Response: What are the signs and symptoms of Congenital generalized lipodystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal recessive hyper IgE syndrome ? ### Response: Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive hyper IgE syndrome ? ### Response: What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ? ### Response: What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Erythroderma lethal congenital ? ### Response: What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Arts syndrome ? ### Response: Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arts syndrome ? ### Response: What are the signs and symptoms of Arts syndrome? Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Arts syndrome ? ### Response: What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. " "Below is an instruction from Human. Write a response. ### Instruction: Is Arts syndrome inherited ? ### Response: How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fibrolamellar carcinoma ? ### Response: Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Fibrolamellar carcinoma ? ### Response: What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fibrolamellar carcinoma ? ### Response: How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fibrolamellar carcinoma ? ### Response: How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leigh syndrome, French Canadian type ? ### Response: What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kenny-Caffey syndrome type 1 ? ### Response: What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ? ### Response: What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Split hand split foot nystagmus ? ### Response: Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Split hand split foot nystagmus ? ### Response: What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. " "Below is an instruction from Human. Write a response. ### Instruction: Is Split hand split foot nystagmus inherited ? ### Response: How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beardwell syndrome ? ### Response: What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital deafness with vitiligo and achalasia ? ### Response: Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital deafness with vitiligo and achalasia ? ### Response: What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ? ### Response: What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Situs inversus ? ### Response: Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Situs inversus ? ### Response: What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. " "Below is an instruction from Human. Write a response. ### Instruction: Is Situs inversus inherited ? ### Response: Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Situs inversus ? ### Response: How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Situs inversus ? ### Response: How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Response: What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myelocytic leukemia-like syndrome, familial, chronic ? ### Response: What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tremor hereditary essential, 2 ? ### Response: What are the signs and symptoms of Tremor hereditary essential, 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremor hereditary essential, 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyridoxine-dependent epilepsy ? ### Response: Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyridoxine-dependent epilepsy ? ### Response: What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pyridoxine-dependent epilepsy ? ### Response: What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyridoxine-dependent epilepsy ? ### Response: How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ankylosing spondylitis ? ### Response: Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ankylosing spondylitis ? ### Response: What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ankylosing spondylitis inherited ? ### Response: Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ankylosing spondylitis ? ### Response: How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone-rod dystrophy 6 ? ### Response: What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type VI ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolman disease ? ### Response: Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wolman disease ? ### Response: What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolman disease ? ### Response: How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic neutropenia ? ### Response: Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic neutropenia ? ### Response: What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleidorhizomelic syndrome ? ### Response: What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spermatogenesis arrest ? ### Response: What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of IVIC syndrome ? ### Response: What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wandering spleen ? ### Response: Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wandering spleen ? ### Response: How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis hystrix, Curth Macklin type ? ### Response: What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Silicosis ? ### Response: Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Silicosis ? ### Response: What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may a " "Below is an instruction from Human. Write a response. ### Instruction: What causes Silicosis ? ### Response: What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 4 ? ### Response: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 4 ? ### Response: What are the signs and symptoms of Aicardi-Goutieres syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Striatonigral degeneration infantile ? ### Response: What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycosylphosphatidylinositol deficiency ? ### Response: What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukoplakia ? ### Response: Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukoplakia ? ### Response: What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukoplakia ? ### Response: How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism, mental retardation and eye abnormality ? ### Response: What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuhauser Eichner Opitz syndrome ? ### Response: What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eosinophilic fasciitis ? ### Response: Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Eosinophilic fasciitis ? ### Response: What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Eosinophilic fasciitis ? ### Response: How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculocutaneous albinism ? ### Response: Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculocutaneous albinism ? ### Response: What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oculocutaneous albinism ? ### Response: What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal tubular dysgenesis ? ### Response: What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic liver disease ? ### Response: Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic liver disease ? ### Response: What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ? ### Response: What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) CDKL5-related disorder ? ### Response: A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A1 ? ### Response: What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinocerebellar ataxia 2 ? ### Response: Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: Is Spinocerebellar ataxia 2 inherited ? ### Response: How is spinocerebellar ataxia 2 inherited? Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of ATXN2 (the responsible gene) in each cell is enough to cause signs and symptoms of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spinocerebellar ataxia 2 ? ### Response: How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulna hypoplasia with mental retardation ? ### Response: What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pallister-Killian mosaic syndrome ? ### Response: Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pallister-Killian mosaic syndrome ? ### Response: What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Punctate inner choroidopathy ? ### Response: Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of peripheral vision. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anterior polar cataract 2 ? ### Response: What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypochromic microcytic anemia with iron overload ? ### Response: What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscle eye brain disease ? ### Response: Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscle eye brain disease ? ### Response: What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Muscle eye brain disease ? ### Response: What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectrodactyly cleft palate syndrome ? ### Response: What are the signs and symptoms of Ectrodactyly cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Malignant eccrine spiradenoma ? ### Response: How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma. Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for treating this cancer. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) L-arginine:glycine amidinotransferase deficiency ? ### Response: L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of L-arginine:glycine amidinotransferase deficiency ? ### Response: What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microhydranencephaly ? ### Response: Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Microhydranencephaly ? ### Response: What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Microhydranencephaly inherited ? ### Response: Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Microhydranencephaly ? ### Response: How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Punctate palmoplantar keratoderma type 2 ? ### Response: What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipodystrophy, familial partial, type 2 ? ### Response: What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Schwannomatosis ? ### Response: What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. " "Below is an instruction from Human. Write a response. ### Instruction: Is Schwannomatosis inherited ? ### Response: Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schwannomatosis ? ### Response: How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schwannomatosis ? ### Response: How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-inflammatories for pain can be successful for many patients. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher syndrome, type 1B ? ### Response: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Usher syndrome, type 1B ? ### Response: What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Usher syndrome, type 1B inherited ? ### Response: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Split hand split foot malformation autosomal recessive ? ### Response: Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Woodhouse Sakati syndrome ? ### Response: What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Catamenial pneumothorax ? ### Response: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Catamenial pneumothorax ? ### Response: What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Catamenial pneumothorax ? ### Response: What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Catamenial pneumothorax ? ### Response: How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Catamenial pneumothorax ? ### Response: How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peyronie disease ? ### Response: Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peyronie disease ? ### Response: What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juberg Marsidi syndrome ? ### Response: What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital mirror movement disorder ? ### Response: Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital mirror movement disorder ? ### Response: What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Partington syndrome ? ### Response: Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Partington syndrome ? ### Response: What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abnormal gait (style of walking) Recurrent seizures Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Partington syndrome ? ### Response: What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i. " "Below is an instruction from Human. Write a response. ### Instruction: Is Partington syndrome inherited ? ### Response: Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Partington syndrome ? ### Response: How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aplasia cutis congenita ? ### Response: What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aplasia cutis congenita ? ### Response: How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin defect. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital lobar emphysema ? ### Response: Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital lobar emphysema ? ### Response: What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital dyserythropoietic anemia type 3 ? ### Response: What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glycogen storage disease type 7 ? ### Response: Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 7 ? ### Response: What are the signs and symptoms of Glycogen storage disease type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Systemic scleroderma ? ### Response: Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Systemic scleroderma ? ### Response: What are the signs and symptoms of Systemic scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Systemic scleroderma ? ### Response: What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. " "Below is an instruction from Human. Write a response. ### Instruction: Is Systemic scleroderma inherited ? ### Response: Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the condition have been reported to run in families. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Systemic scleroderma ? ### Response: Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a ""carrier"" is not currently available. Even if someone is known to carry a version of a gene that may make them susceptible to the condition, it does not mean they will definitely develop the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 11 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Spinocerebellar ataxia 11 inherited ? ### Response: How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stratton-Garcia-Young syndrome ? ### Response: What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 3 ? ### Response: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 3 ? ### Response: What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehlers-Danlos syndrome, vascular type ? ### Response: Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome, vascular type ? ### Response: What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. " "Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome, vascular type inherited ? ### Response: Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ehlers-Danlos syndrome, vascular type ? ### Response: How is Ehlers-Danlos syndrome, vascular type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), vascular type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene can then be ordered to confirm the diagnosis. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome, vascular type ? ### Response: How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asthma ? ### Response: Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms (""asthma attacks"") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Asthma ? ### Response: What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? ### Response: Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? ### Response: What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Keutel syndrome ? ### Response: Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keutel syndrome ? ### Response: What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type ? ### Response: What are the signs and symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism intellectual disability syndrome, Verloes type. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurofibroma ? ### Response: A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ? ### Response: What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crome syndrome ? ### Response: What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile myoclonic epilepsy ? ### Response: Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile myoclonic epilepsy ? ### Response: What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. " "Below is an instruction from Human. Write a response. ### Instruction: Is Juvenile myoclonic epilepsy inherited ? ### Response: Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile myoclonic epilepsy ? ### Response: How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tularemia ? ### Response: Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. It is transmitted to humans by contact with infected animal tissues or by ticks, biting flies, and mosquitoes. The condition is most common in North America and parts of Europe and Asia. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tularemia ? ### Response: What causes tularemia? Tularemia is caused by the bacterium Francisella tularensis found in animals (especially rodents, rabbits, and hares). Humans can get the disease through: Direct contact, through a break in the skin, with an infected animal or its dead body The bite of an infected tick, horsefly, or mosquito Eating infected meat (rare) Breathing in the bacteria, F. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tularemia ? ### Response: How is tularemia treated? The goal of treatment is to cure the infection with antibiotics. Streptomycin and tetracycline are commonly used to treat this infection. Once daily gentamycin treatment has been tried with excellent results as an alternative therapy to streptomycin. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 6p deletion ? ### Response: Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Baraitser Brett Piesowicz syndrome ? ### Response: What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frontotemporal dementia ? ### Response: Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontotemporal dementia ? ### Response: What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyskeratosis congenita autosomal dominant ? ### Response: What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Collagenous colitis ? ### Response: Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Collagenous colitis ? ### Response: What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Collagenous colitis ? ### Response: How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 12 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypersensitivity vasculitis ? ### Response: Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urticaria); and/or open sores with dead tissue (necrotic ulcers). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypersensitivity vasculitis ? ### Response: What are the signs and symptoms of Hypersensitivity vasculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypersensitivity vasculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 20 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Facial ectodermal dysplasia ? ### Response: What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal dysplasia megalocystis sirenomelia ? ### Response: What are the signs and symptoms of Renal dysplasia megalocystis sirenomelia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia megalocystis sirenomelia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fuhrmann syndrome ? ### Response: What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tricho-dento-osseous syndrome 1 ? ### Response: What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 8p23.1 duplication syndrome ? ### Response: What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chiari malformation type 1 ? ### Response: Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chiari malformation type 1 ? ### Response: What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chiari malformation type 1 ? ### Response: What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chiari malformation type 1 ? ### Response: How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculopharyngeal muscular dystrophy ? ### Response: Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculopharyngeal muscular dystrophy ? ### Response: What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Oculopharyngeal muscular dystrophy ? ### Response: What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Oculopharyngeal muscular dystrophy ? ### Response: What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Oculopharyngeal muscular dystrophy ? ### Response: Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting testing click here. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oculopharyngeal muscular dystrophy ? ### Response: How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proud syndrome ? ### Response: Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proud syndrome ? ### Response: What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Proud syndrome ? ### Response: What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles). " "Below is an instruction from Human. Write a response. ### Instruction: Is Proud syndrome inherited ? ### Response: How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Proud syndrome ? ### Response: How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frias syndrome ? ### Response: What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital anosmia ? ### Response: Congenital anosmia is a very rare condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome and congenital insensitivity to pain). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital anosmia ? ### Response: What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital anosmia ? ### Response: What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital anosmia inherited ? ### Response: Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital anosmia ? ### Response: How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital anosmia ? ### Response: How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpha-1 antitrypsin deficiency ? ### Response: Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-1 antitrypsin deficiency ? ### Response: What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Alpha-1 antitrypsin deficiency ? ### Response: What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alpha-1 antitrypsin deficiency ? ### Response: How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alpha-1 antitrypsin deficiency ? ### Response: How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic intestinal pseudoobstruction ? ### Response: Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic intestinal pseudoobstruction ? ### Response: What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ? ### Response: Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? ### Response: What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? ### Response: What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ? ### Response: What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Waardenburg syndrome ? ### Response: What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Waardenburg syndrome ? ### Response: How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) ADNP syndrome ? ### Response: ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ADNP syndrome ? ### Response: What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marshall-Smith syndrome ? ### Response: Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marshall-Smith syndrome ? ### Response: What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? ### Response: What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acatalasemia ? ### Response: What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic hiccups ? ### Response: Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic hiccups ? ### Response: What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic hiccups ? ### Response: What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic hiccups ? ### Response: What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic hiccups ? ### Response: How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome 3 ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome 3 ? ### Response: What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome 3 ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Costocoracoid ligament congenitally short ? ### Response: What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 5q deletion ? ### Response: Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wilson-Turner syndrome ? ### Response: What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple epiphyseal dysplasia ? ### Response: Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple epiphyseal dysplasia ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Multiple epiphyseal dysplasia inherited ? ### Response: How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic inflammatory myopathy ? ### Response: Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic inflammatory myopathy ? ### Response: What are the signs and symptoms of Idiopathic inflammatory myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic inflammatory myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Split hand foot malformation ? ### Response: Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Split hand foot malformation ? ### Response: What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Split hand foot malformation ? ### Response: What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital dyserythropoietic anemia type 2 ? ### Response: Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital dyserythropoietic anemia type 2 ? ### Response: What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital dyserythropoietic anemia type 2 ? ### Response: How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhabdomyosarcoma alveolar ? ### Response: What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital contractural arachnodactyly ? ### Response: What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. " "Below is an instruction from Human. Write a response. ### Instruction: Is Congenital contractural arachnodactyly inherited ? ### Response: How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital contractural arachnodactyly ? ### Response: How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pellagra like syndrome ? ### Response: What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fraser like syndrome ? ### Response: What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Geroderma osteodysplastica ? ### Response: Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Geroderma osteodysplastica ? ### Response: What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? ### Response: What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency ? ### Response: What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 11 ? ### Response: What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation ? ### Response: What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth retardation. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radio-ulnar synostosis type 2 ? ### Response: What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary vein stenosis ? ### Response: Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary vein stenosis ? ### Response: What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kuskokwim disease ? ### Response: Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kuskokwim disease ? ### Response: What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kuskokwim disease ? ### Response: How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beta-thalassemia ? ### Response: Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beta-thalassemia ? ### Response: What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Beta-thalassemia inherited ? ### Response: How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leucine-sensitive hypoglycemia of infancy ? ### Response: What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Logopenic progressive aphasia ? ### Response: Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Logopenic progressive aphasia ? ### Response: How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duodenal atresia ? ### Response: What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyotonia congenita ? ### Response: What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphedema-distichiasis syndrome ? ### Response: Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphedema-distichiasis syndrome ? ### Response: What are the signs and symptoms of Lymphedema-distichiasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema-distichiasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuropathy, congenital, with arthrogryposis multiplex ? ### Response: What are the signs and symptoms of Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemophilia B ? ### Response: Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemophilia B ? ### Response: What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ? ### Response: What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kozlowski Celermajer Tink syndrome ? ### Response: What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 34 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myofibrillar myopathy ? ### Response: Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myofibrillar myopathy ? ### Response: What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyruvate decarboxylase deficiency ? ### Response: What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rippling muscle disease, 1 ? ### Response: What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 2q deletion ? ### Response: Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Herrmann syndrome ? ### Response: What are the signs and symptoms of Herrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Herrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Richieri Costa Da Silva syndrome ? ### Response: What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myocarditis ? ### Response: Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abdominal aortic aneurysm ? ### Response: Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Abdominal aortic aneurysm ? ### Response: What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Abdominal aortic aneurysm inherited ? ### Response: Is abdominal aortic aneurysm inherited? Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb-girdle muscular dystrophy type 2A ? ### Response: Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy type 2A ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porokeratosis of Mibelli ? ### Response: Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porokeratosis of Mibelli ? ### Response: What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Porokeratosis of Mibelli ? ### Response: How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mantle cell lymphoma ? ### Response: Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mantle cell lymphoma ? ### Response: What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mantle cell lymphoma ? ### Response: What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mantle cell lymphoma ? ### Response: How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mantle cell lymphoma ? ### Response: How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Linear porokeratosis ? ### Response: Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Linear porokeratosis ? ### Response: How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of the characteristic skin markings. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 1q21.1 microdeletion syndrome ? ### Response: What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chudley-Mccullough syndrome ? ### Response: What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erythema nodosum, idiopathic ? ### Response: Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, X-linked 2 ? ### Response: What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epithelial basement membrane corneal dystrophy ? ### Response: Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epithelial basement membrane corneal dystrophy ? ### Response: What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Epithelial basement membrane corneal dystrophy ? ### Response: How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Histidinemia ? ### Response: What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Basilar migraine ? ### Response: Basilar migraine is a type of migraine headache with aura that is associated with bilateral (on both sides) pain at the back of the head. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming and may include dizziness and vertigo, slurred speech, ataxia, tinnitus, visual changes, and loss of balance. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Basilar migraine ? ### Response: What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. " "Below is an instruction from Human. Write a response. ### Instruction: Is Basilar migraine inherited ? ### Response: Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Basilar migraine ? ### Response: How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Basilar migraine ? ### Response: How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial DNA-associated Leigh syndrome ? ### Response: Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial DNA-associated Leigh syndrome ? ### Response: What are the signs and symptoms of Mitochondrial DNA-associated Leigh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial DNA-associated Leigh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schisis association ? ### Response: What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Central core disease ? ### Response: Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Central core disease ? ### Response: What are the signs and symptoms of Central core disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Central core disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Central core disease ? ### Response: How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Central core disease ? ### Response: What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb dystonia ? ### Response: Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Currarino triad ? ### Response: Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Currarino triad ? ### Response: What are the signs and symptoms of Currarino triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Currarino triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Currarino triad ? ### Response: What causes Currarino triad? Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein. " "Below is an instruction from Human. Write a response. ### Instruction: Is Currarino triad inherited ? ### Response: How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lubinsky syndrome ? ### Response: What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tracheobronchomalacia ? ### Response: Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tracheobronchomalacia ? ### Response: What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Tracheobronchomalacia ? ### Response: What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). " "Below is an instruction from Human. Write a response. ### Instruction: Is Tracheobronchomalacia inherited ? ### Response: Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tracheobronchomalacia ? ### Response: How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severity of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tracheobronchomalacia ? ### Response: How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Johnson neuroectodermal syndrome ? ### Response: What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ? ### Response: What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Angel shaped phalangoepiphyseal dysplasia ? ### Response: What are the signs and symptoms of Angel shaped phalangoepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Angel shaped phalangoepiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 8q24.3 deletion syndrome ? ### Response: Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 8q24.3 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amelogenesis imperfecta ? ### Response: Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Amelogenesis imperfecta ? ### Response: What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. " "Below is an instruction from Human. Write a response. ### Instruction: Is Amelogenesis imperfecta inherited ? ### Response: How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amelogenesis imperfecta ? ### Response: How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amelogenesis imperfecta ? ### Response: How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial episodic pain syndrome ? ### Response: What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ? ### Response: What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nephrotic syndrome, idiopathic, steroid-resistant ? ### Response: What are the signs and symptoms of Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diamond-Blackfan anemia 3 ? ### Response: What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Desmoid tumor ? ### Response: What are the signs and symptoms of Desmoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Von Hippel-Lindau disease ? ### Response: What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). " "Below is an instruction from Human. Write a response. ### Instruction: What causes Von Hippel-Lindau disease ? ### Response: What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease. " "Below is an instruction from Human. Write a response. ### Instruction: Is Von Hippel-Lindau disease inherited ? ### Response: How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Von Hippel-Lindau disease ? ### Response: How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 16 ? ### Response: What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontofacionasal dysplasia ? ### Response: What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ataxia telangiectasia ? ### Response: What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carney triad ? ### Response: What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Meckel syndrome type 2 ? ### Response: What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculomaxillofacial dysostosis ? ### Response: What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Disseminated peritoneal leiomyomatosis ? ### Response: Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Disseminated peritoneal leiomyomatosis ? ### Response: What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Disseminated peritoneal leiomyomatosis ? ### Response: How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Disseminated peritoneal leiomyomatosis ? ### Response: How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyde Forster Mccarthy Berry syndrome ? ### Response: What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Diffuse cutaneous systemic sclerosis ? ### Response: What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ? ### Response: What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pheochromocytoma-islet cell tumor syndrome ? ### Response: What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Meningoencephalocele ? ### Response: Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Meningoencephalocele ? ### Response: What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. " "Below is an instruction from Human. Write a response. ### Instruction: Is Meningoencephalocele inherited ? ### Response: Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Presenile dementia, Kraepelin type ? ### Response: What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation, X-linked, nonspecific ? ### Response: What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculoectodermal syndrome ? ### Response: What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Parsonage Turner syndrome ? ### Response: Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parsonage Turner syndrome ? ### Response: What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Parsonage Turner syndrome ? ### Response: What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. " "Below is an instruction from Human. Write a response. ### Instruction: Is Parsonage Turner syndrome inherited ? ### Response: Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parsonage Turner syndrome ? ### Response: How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gupta Patton syndrome ? ### Response: What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reticular dysgenesis ? ### Response: What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Bowen syndrome ? ### Response: What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tietze syndrome ? ### Response: Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietze syndrome ? ### Response: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietze syndrome ? ### Response: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietze syndrome ? ### Response: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tietze syndrome ? ### Response: How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tietze syndrome ? ### Response: How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Geniospasm ? ### Response: Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Geniospasm ? ### Response: What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: Is Geniospasm inherited ? ### Response: How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Geniospasm ? ### Response: How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Geniospasm ? ### Response: How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Saccharopinuria ? ### Response: What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pityriasis rubra pilaris ? ### Response: Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pityriasis rubra pilaris ? ### Response: What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of the palms and soles. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Pityriasis rubra pilaris ? ### Response: What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins that regulate genes that control the body's immune responses and inflammatory reactions. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pityriasis rubra pilaris ? ### Response: How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ? ### Response: What are the signs and symptoms of Epiphyseal dysplasia hearing loss dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Yorifuji Okuno syndrome ? ### Response: What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation ? ### Response: What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gorlin Chaudhry Moss syndrome ? ### Response: What are the signs and symptoms of Gorlin Chaudhry Moss syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Chaudhry Moss syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limited systemic sclerosis ? ### Response: Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction which leads to the overproduction of collagen (a tough protein which normally strengthens and supports connective tissues throughout the body). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kowarski syndrome ? ### Response: What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ? ### Response: What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Karak syndrome ? ### Response: What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Encephalomyopathy ? ### Response: What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Norrie disease ? ### Response: Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Norrie disease ? ### Response: What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Norrie disease ? ### Response: What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Norrie disease ? ### Response: How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alagille syndrome ? ### Response: Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alagille syndrome ? ### Response: What are the signs and symptoms of Alagille syndrome? Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyloidosis corneal ? ### Response: What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amyloidosis corneal ? ### Response: Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schnitzler syndrome ? ### Response: Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Schnitzler syndrome ? ### Response: What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schnitzler syndrome ? ### Response: How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulnar-mammary syndrome ? ### Response: What are the signs and symptoms of Ulnar-mammary syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar-mammary syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ? ### Response: What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP type. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteomesopyknosis ? ### Response: Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteomesopyknosis ? ### Response: What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. " "Below is an instruction from Human. Write a response. ### Instruction: Is Osteomesopyknosis inherited ? ### Response: How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acrodysplasia scoliosis ? ### Response: Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrodysplasia scoliosis ? ### Response: What are the signs and symptoms of Acrodysplasia scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodysplasia scoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microtia-Anotia ? ### Response: What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ? ### Response: Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ? ### Response: What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Normophosphatemic familial tumoral calcinosis ? ### Response: What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lattice corneal dystrophy type 3A ? ### Response: Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lattice corneal dystrophy type 3A ? ### Response: What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of T-cell lymphoma 1A ? ### Response: What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Steatocystoma multiplex with natal teeth ? ### Response: What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) MECP2 duplication syndrome ? ### Response: MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MECP2 duplication syndrome ? ### Response: What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks of life. " "Below is an instruction from Human. Write a response. ### Instruction: What causes MECP2 duplication syndrome ? ### Response: What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. " "Below is an instruction from Human. Write a response. ### Instruction: Is MECP2 duplication syndrome inherited ? ### Response: Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). " "Below is an instruction from Human. Write a response. ### Instruction: Is MECP2 duplication syndrome inherited ? ### Response: Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MECP2 duplication syndrome ? ### Response: How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia macular degeneration growth retardation ? ### Response: What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ? ### Response: What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mosaic trisomy 14 ? ### Response: What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Mosaic trisomy 14 ? ### Response: What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mosaic trisomy 14 ? ### Response: How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Quinquaud's decalvans folliculitis ? ### Response: What are the signs and symptoms of Quinquaud's decalvans folliculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Quinquaud's decalvans folliculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mulibrey Nanism ? ### Response: Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mulibrey Nanism ? ### Response: What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mulibrey Nanism ? ### Response: Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylocostal dysostosis 4 ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylocostal dysostosis 4 ? ### Response: What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leprechaunism ? ### Response: Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leprechaunism ? ### Response: What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kallmann syndrome 5 ? ### Response: What are the signs and symptoms of Kallmann syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile Huntington disease ? ### Response: Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile Huntington disease ? ### Response: What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile Huntington disease ? ### Response: What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. " "Below is an instruction from Human. Write a response. ### Instruction: Is Juvenile Huntington disease inherited ? ### Response: How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Juvenile Huntington disease ? ### Response: How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile Huntington disease ? ### Response: How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary congenital facial paresis ? ### Response: What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Borjeson-Forssman-Lehmann syndrome ? ### Response: Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Borjeson-Forssman-Lehmann syndrome ? ### Response: What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Singleton Merten syndrome ? ### Response: Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Singleton Merten syndrome ? ### Response: What are the signs and symptoms of Singleton Merten syndrome? Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Singleton Merten syndrome ? ### Response: How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hyperinsulinism ? ### Response: Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hyperinsulinism ? ### Response: What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Loin pain hematuria syndrome ? ### Response: Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loin pain hematuria syndrome ? ### Response: What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen with exercise or when lying in a supine (face upward) position. " "Below is an instruction from Human. Write a response. ### Instruction: What causes Loin pain hematuria syndrome ? ### Response: What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. " "Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Loin pain hematuria syndrome ? ### Response: How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be performed to detect microscopic levels of hematuria. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Loin pain hematuria syndrome ? ### Response: How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus ? ### Response: What are the signs and symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus? The Human Phenotype Ontology provides the following list of signs and symptoms for Natal teeth, intestinal pseudoobstruction and patent ductus. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polydactyly ? ### Response: Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ? ### Response: What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudopelade of Brocq ? ### Response: What are the signs and symptoms of Pseudopelade of Brocq? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopelade of Brocq. If the information is available, the table below includes how often the symptom is seen in people with this condition. " "Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pseudopelade of Brocq ? ### Response: Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment. " "Below is an instruction from Human. Write a response. ### Instruction: What is (are) Desmoplastic small round cell tumor ? ### Response: Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. "